atlas of the newborn [vol 3] - a. rudolph (bc decker, 1997) ww

Rudolph

NewbornAtlas of the

V O L U M E 3

Head and Neck, Eye, Central Nervous System

V O L U M E 3

NewbornAtlas of the

Head and Neck,

Eye,

Central Nervous

System

Arnold J. Rudolph, M.D. 1918-1995

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Arnold J. Rudolph, M.D.1918–1995

Professor of Pediatrics,Obstetrics, and GynecologyBaylor College of Medicine

Houston, Texas

V O L U M E 3

NewbornAtlas of the

Head and Neck,

Eye,

Central Nervous

System

Arnold J. Rudolph, M.D. 1918-1995

with a chapter on neonatal ophthalamology by

Helen A. Mintz-Hittner, M.D.

1997

B.C. Decker Inc. Hamilton • London

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ForewordSir William Osler stated, “There is no more

difficult task in medicine than the art ofobservation.” The late Arnold Jack Rudolphwas an internationally renowned neonatolo-gist, a teacher’s teacher, and, above all, onewho constantly reminded us about how muchcould be learned by simply observing, in hiscase, the newborn infant.

This color atlas of neonatology represents adistillation of more than 50 years of observingnormal and abnormal newborn infants. TheAtlas begins with a section on the placenta,its membranes, and the umbilical cord. JackRudolph delighted in giving a lecture entitled“Don’t Make Mirth of the Afterbirth,” inwhich he captivated audiences by showingthem how much you could learn about thenewborn infant from simply observing theplacenta, its membranes, and the umbilicalcord.

In a few more than 60 photomicrographs,we learn to read the placenta and gain insightinto such disorders as intrauterine growthretardation, omphalitis, cytomegalic inclu-sion disease, congenital syphilis, and congen-ital neuroblastoma. Congenital abnormalitiesof every organ system are depicted along withthe appearance of newborn infants who havebeen subjected in utero to a variety of differ-ent drugs, toxins, or chemicals. We also learnto appreciate the manifestations of birthtrauma and abnormalities caused by abnormalintrauterine positioning.

More than 250 photographs are used toillustrate the field of neonatal dermatology.The collection of photographs used in thissection is superior to that which I have seenin any other textbook or atlas of neonatologyor dermatology; this section alone makes thisreference a required addition to the library ofany clinician interested in the care of infantsand children. Photographs of the Kasabach-Merritt syndrome (cavernous hemangiomawith thrombocytopenia), Klippel-Trénaunaysyndrome, Turner’s syndrome, Waardenburg’ssyndrome, neurocutaneous melanosis, mas-tocytosis (urticaria pigmentosa), and incon-

tinentia pigmenti (Bloch-Sulzberger syn-drome) are among the best that I have seen.

Cutaneous manifestations are associatedwith many perinatal infections. The variedmanifestations of staphylococcal infection ofthe newborn are depicted vividly in photomi-crographs of furunculosis, pyoderma, bullousimpetigo, abscesses, parotitis, dacryocystitis,inastitis, cellulitis, omphalitis, and funisitis.Streptococcal cellulitis, Haemophilus influen-zae cellulitis, and cutaneous manifestations oflisteriosis all are depicted. There are numer-ous photomicrographs of congenital syphilis,showing the typical peripheral desquamativerash on the palms and soles, as well as otherpotential skin manifestations of congenitalsyphilis which may produce either vesicular,bullous, or ulcerative lesions. The variousradiologic manifestations of congenitalsyphilis, including pneumonia alba, ascites,growth arrest lines, Wegner’s sign, periostitis,and syphilitic osteochondritis, are depicted.Periostitis of the clavicle (Higouménaki’ssign) is shown in a photograph that alsodepicts periostitis of the ribs. A beautiful pho-tomicrograph of Wimberger’s sign also hasbeen included; this sign, which may appear inan infant with congenital syphilis, revealsradiolucency due to erosion of the medialaspect of the proximal tibial metaphysis.

The Atlas also includes a beautiful set ofphotographs which delineate the ophthalmo-logic examination of the newborn. Lesionswhich may result from trauma, infection, orcongenital abnormalities are included. Thereare numerous photographs of the ocular man-ifestations of a variety of systemic diseases,such as Tay-Sachs disease, tuberous sclerosis,tyrosinase deficiency, and many more.Photographs of disturbances of each of thevarious organ systems, or disorders affectingsuch organ systems, also are included alongwith numerous photographs of different formsof dwarfism, nonchromosomal syndromes andassociations, and chromosomal disorders. Inshort, this Atlas is the complete visualtextbook of neonatology and will provide any

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physician, nurse, or student with a distillationof 50 years of neonatal experience as viewedthrough the eyes of a master clinician.

Arnold Jack Rudolph was born in 1918,grew up in South Africa, and graduated fromthe Witwatersrand Medical School in 1940.Following residency training in pediatrics atthe Transvaal Memorial Hospital forChildren, he entered private pediatric prac-tice in Johannesburg, South Africa. Afteralmost a decade, he left South Africa andmoved to Boston, where he served as a SeniorAssistant Resident in Medicine at theChildren’s Medical Center in Boston,Massachusetts, and subsequently pursued fel-lowship training in neonatology at the sameinstitution and at the Boston Lying-InHospital, Children’s Medical Center andHarvard Medical School under Dr. ClementA. Smith.

In 1961, Dr. Rudolph came to BaylorCollege of Medicine in Houston, Texas, theschool at which he spent the remainder of hiscareer. He was a master teacher, who receivedthe outstanding teacher award from pediatricmedical students on so many occasions thathe was elected to the Outstanding FacultyHall of Fame in 1982. Dr. Rudolph alsoreceived numerous awards over the years fromthe pediatric house staffs for his superb teach-ing skills.

He was the Director of the NewbornSection in the Department of Pediatrics atBaylor College of Medicine for many years,until he voluntarily relinquished that posi-tion in 1986 for reasons related to his health.

Nevertheless, Jack Rudolph continued towork extraordinarily long hours in the care ofthe newborn infant, and was at the bedsideteaching both students and house staff, aswell as his colleagues, on a daily basis untiljust a few months before his death in July1995.

Although Dr. Rudolph was the author orco-author of more than 100 published papersthat appeared in the peer-reviewed medicalliterature, his most lasting contribution toneonatology and to pediatrics is in the legacyof the numerous medical students, house staff,fellows, and other colleagues whom he taughtincessantly about how much one could learnfrom simply observing the newborn infant.This Atlas is a tour de force; it is a spectacularteaching tool that has been developed, collat-ed, and presented by one of the finest clinicalneonatologists in the history of medicine. It isan intensely personal volume that, as Dr.Rudolph himself states, “is not intended torival standard neonatology texts,” but ratherto supplement them. This statement revealsDr. Rudolph’s innate modesty, since with theexception of some discussion on pathogenesisand treatment, it surpasses most neonatologytexts in the wealth of clinical informationthat one can derive from viewing and imbib-ing its contents. We owe Dr. Rudolph andthose who aided him in this work a debt ofgratitude for making available to the medicalcommunity an unparalleled visual referenceon the normal and abnormal newborn infant.

Ralph D. Feigin, M.D.June 13, 1996

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PrefaceI first became attracted to the idea of pro-

ducing a color atlas of neonatology manyyears ago. However, the impetus to synthesizemy experience and compile this current col-lection was inspired by the frequent requestsfrom medical students, pediatric house staff,nurses and others to provide them with acolor atlas of the clinical material provided inmy “slide shows.” For the past few decades Ihave used the medium of color slides andradiographs as a teaching tool. In these week-ly “slide shows” the normal and abnormal, aswords never can, are illustrated.

“I cannot define an elephant but I know onewhen I see one.”1

The collection of material used has beenadded to constantly with the support of thepediatric house staff who inform me to “bringyour camera” whenever they see an unusualclinical finding or syndrome in the nurseries.

A thorough routine neonatal examinationis the inalienable right of every infant. Mostnewborn babies are healthy and only a rela-tively small number may require special care.It is important to have the ability to distin-guish normal variations and minor findingsfrom the subtle early signs of problems. Thetheme that recurs most often is that carefulclinical assessment, in the traditional sense, isthe prerequisite and the essential foundationfor understanding the disorders of the new-born. It requires familiarity with the widerange of normal, as well as dermatologic, car-diac, pulmonary, gastrointestinal, genitouri-nary, neurologic, and musculoskeletal disor-ders, genetics and syndromes. A backgroundin general pediatrics and a working knowl-edge of obstetrics are essential. The generallayout of the atlas is based on the above.Diseases are assigned to each section on thebasis of the most frequent and obvious pre-senting sign. It seems probable that the find-

ings depicted will change significantly in thedecades to come. In this way duplication hasbeen kept to a minimum. Additional spacehas been devoted to those areas of neonatalpathology (e.g., examination of the placenta,multiple births and iatrogenesis) which poseparticular problems or cause clinical concern.

Obviously, because of limitations of space,it is impossible to be comprehensive and includeevery rare disorder or syndrome. I have tried toselect both typical findings and variations innormal infants and those found in uncommonconditions. Some relevant conditions whereindividual variations need to be demonstratedare shown in more than one case.

As the present volume is essentially one ofmy personal experience, it is not intended torival standard neonatology texts, but is pre-sented as a supplement to them. It seemslogical that references should be to standardtexts or reviews where discussion on patho-genesis, treatment, and references to originalworks may be found.

Helen Mintz Hittner, M.D., has been kindenough to contribute the outstanding sectionon neonatal ophthalmology.

I have done my best to make the necessaryacknowledgements to the various sources forthe clinical material. If I have inadvertentlyomitted any of those, I apologize. My mostsincere appreciation and thanks to DonnaHamburg, M.D., Kru Ferry, M.D., MichaelGomez, M.D., Virginia Schneider, PA, andJeff Murray, M.D., who have spentinnumerable hours in organizing and cullingthe material from my large collection. Wewish to thank Abraham M. Rudolph, M.D.,for his assistance in reviewing the material.We also wish to thank the following peoplefor their photo contributions to this work:Claire Langston, Helen Mintz–Hittner, RoseWolfson.

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It is hoped that this atlas will provideneonatologists, pediatricians, family physi-cians, medical students and nurses with abasis for recognizing a broad spectrum of nor-mal variations and clinical problems as wellas provide them with an overall perspectiveof neonatology, a field in which there contin-ues to be a rapid acceleration of knowledge

and technology. One must bear in mind thecaveat that pictures cannot supplant clinicalexperience in mastering the skill of visualrecall.

1. Senile dementia of Alzheimer’s type — normal aging ordisease? (Editorial) Lancet 1989; i:476-477.

Arnold J. Rudolph, M.D.

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CONTENTS

Volume IIIHead and Neck, Eye, Central Nervous System

1. Head and Neck 1

2. Ophthalmology 59

3. Central Nervous System 103

Index 144

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Although several texts provide extensive written descriptions of the newborn infant, thesenses of touch, hearing, and especially sight, create the most lasting impressions. Over a periodof almost five decades, my brother Jack Rudolph diligently recorded, in pictorial form, his vastexperiences in physical examination of the newborn infant. Atlas of the Newborn reflects hisselection from the thousands of color slides in his collection, and truly represents the “art ofmedicine” as applied to neonatology. A number of unusual or rare conditions are included inthis atlas. I consider this fully justified, because if one has not seen or heard of a condition, onewill never be able to diagnose it.

This third volume of the five-volume series encompasses three main topics: the head andneck, the eyes, and the central nervous system.

Chapter 1 of this volume focuses on the head and neck, and includes a singular collectiondepicting various abnormalities of skull shape and size, demonstrating how external forces dur-ing the birth process may mold the cranial vault. Facial cleft syndromes, including midlinefacial defects, cleft lip, cleft palate, and other facial clefts, are graphically shown. In addition,abnormalities of the mouth, tongue, and ears are represented in outstanding photographs.

Chapter 2 concentrates on disorders of the eye, and is unique in its graphic representation ofophthalmalogic problems in the newborn. The importance of careful and systematic examina-tion of the various components of the eye in the neonate is stressed, as often it is neglected.

Chapter 3 is dedicated to disorders of the central nervous system. In addition to pictoriallyrepresentating many of the abnormalities that are noted to result from neonatal neurologicabnormalities, this chapter provides an extensive graphic description of the various forms ofmeningocele.

Volume III of Atlas of the Newborn will be extremely valuable to obstetricians, neonatologists,pediatricians and nurses involved in perinatal care, and also to clinical geneticists, surgeons,ophthalmologists and neurologists involved in the care of the newborn infant.

Abraham M. Rudolph, M.D.

Introduction

Chapter 1Head and NeckExamination of the head should include visual inspection, palpation, auscultation (for bruits overthe temporal arteries and anterior fontanelle), assessment of the shape and size relative to the restof the body and face, distribution and character of the hair and underlying scalp, and measure-ment of head circumference. The hair is inspected for color, texture, distribution and directionalpatterns. The shape of the cranial vault reflects interaction of internal (anatomy, volume, pres-sure) and external (intra- and extrauterine molding, suture mobility) forces. The mode of deliv-ery will affect the shape of the head (e.g., vaginal delivery with vertex presentation leads to anarrowed biparietal diameter and a maximal occipitomental dimension; breech presentation mayaccentuate the occipitofrontal dimension with parietal flattening and frontal prominence).Normal molding resolves within a few weeks, but other aberrations progress.

Normal variations in contour, size, relationships, and range of motion of the newborn neck mustbe distinguished from congenital anomalies and traumatic lesions. The neck should be examinedpassively for rotation, lateral flexion, anterior flexion, and extension. Rotation of 80° and lateralflexion of 40° should be present and symmetric to both sides. Extension and flexion are difficultto measure, but in flexion the chin should touch or nearly touch the chest wall and extensionshould be 45° from neutral. When rotation or lateral flexion is asymmetrical or when motion islimited, radiographs of the neck should be obtained. The neck should be extended to look forclefts and cysts. The isthmus of a normal thyroid is just palpable in the sternal notch on neckextension. Other congenital neck masses include cystic hygroma, lymphangioma, and cervicalteratoma. The earlier that appropriate treatment is started, the more likely that correction canoccur.

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2 Head and Neck, Eye, Central Nervous System

Figure 1.1. Anteroposterior radiograph ofthe normal newborn skull. Note thefontanelle and suture lines.

Figure 1.2. Lateral radiograph of a normal termnewborn skull. Note the poor mineralization of thebones with separation of sutures. In the lateral view,mineralization of the lower teeth correlates well withgestational age. Mineralization of only the incisorsindicates a gestational age of less than 33 weeks.Mineralization of the incisors and the first molarscorrelates with a gestational age of 33 to 37 weeks.Mineralization of the second molar in addition to theabove correlates with less than 37 weeks gestation.

Figure 1.3. Lateral radiographof the skull showing the pres-ence of an anterior fontanellebone. This infant’s head is some-what elongated. Fontanellebones are more common overthe posterior fontanelle. Thereare no clinical signs and as theskull mineralizes these bonesbecome confluent with the restof the skull. The bone may bepalpable in the fontanelle.

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Figure 1.4. Anteroposterior radiograph of thesame infant as in Figure 1.3, showing the ante-rior fontanelle bone. The third fontanelle is awidening of the sagittal suture near the junctionof its middle and posterior thirds. It representsslowed growth of the plates of the parietal boneand may be distinguished from the posteriorfontanelle by its position and round or ovalappearance.

Figure 1.5. A lateral radiograph of the skull showinga posterior fontanelle bone. Note the poor mineral-ization of the skull in an otherwise normal infant.Mineralization of the skull may be minimal at birthin normal infants.

Figure 1.6. The clinical appearance of congenitalparietal foramina in an otherwise normal neonate.Note that the infant is lying on his face and the depres-sions over the parietal area reflect the defects. Theseare rounded defects in the parietal bone. They are usu-ally bilateral and vary in size from 1 mm to 3 cm. Theyare usually asymptomatic but may cause concernbecause of bulging or pulsation of the overlying scalp.

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Head and Neck 3


Figure 1.7. Radiograph of the skull of the sameinfant as in Figure 1.6. Note the posterior parietalforamina and poor mineralization of the skull witha large metopic suture.

Figure 1.8. Congenital parietal foramina are oftenfamilial, as noted in this radiograph of the skull ofthe mother of the same infant.

Figure 1.9. A radiograph of alinear skull fracture over theparietal bone. This is not com-mon in the neonate but mayoccasionally be associated witha cephalohematoma. It can alsooccur as a result of trauma.

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Figure 1.10. Lateral radiograph of the skull of aninfant with lacunar skull (lückenschädel), which is aresult of defective calcification of the skull bones. Notethe characteristic honeycomb skull appearance. Thismalformation is commonly associated with neural tubedefects (encephalocele and meningocele) and is char-acterized by sharply defined depressions which are usu-ally readily palpable and situated in the frontal andparietal areas.

Figure 1.11. Frontal radiograph of the skullof the same infant with lückenschädel.Compare lückenschädel with craniotabeswhich consists of localized areas of softeningin one or several bones of the vault of theskull. The involved bones feel like parchmentand are easily indented when pressed with thefingertip. When the pressure is removed, thesoft bone resumes its former contour in muchthe same way as an indented ping pong ballrecovers its shape. Craniotabes is more com-mon in term infants than in prematureinfants. It is commonly found in normalinfants, hydrocephalic infants, and in infantswith osteogenesis imperfecta.

Figure 1.12. Lateral skull radiograph oflückenschädel in another infant with a lum-bar meningocele, imperforate anus, and recto-vaginal fistula.

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Figure 1.13. Note the typical long narrow skull of apremature infant with hypsicephaly. Hypsicephaly isa term used by anthropologists for “high heads” thatare not pathologic or due to craniosynostosis. Thisterm is used interchangeably with that of dolicho-cephaly when associated with prematurity.

Figure 1.14. The typical appearance of dolicho-cephaly associated with prematurity. In theseinfants the sagittal suture remains open. Thelong, narrow head of dolichocephaly is not pres-ent at birth but results from transient molding ofthe skull as a result of the infant lying on its side.The large head of the small premature infantrestricts frequent movement of the head, andhence this appearance is a postural deformity.Craniosynostosis with premature fusion of thesagittal suture is different from this normal pos-tural deformity of premature infants.

Figure 1.15. Premature fusion of the sagittalsuture in this infant has resulted in scapho-cephaly. Note the long, narrow head and thefused sagittal suture which presents as a ridge.This condition is more common in maleinfants.

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Figure 1.16. Lateral view of the head of anotherinfant with scaphocephaly. Note the frontal and poste-rior bossing of the head.

Figure 1.17. Craniosynostosis due to premature fusionof the coronal sutures has resulted in brachycephaly.Note the short, round appearance of the head withreduction of the anteroposterior diameter. This alsooccurs in Apert’s syndrome and Carpenter’s syndrome.Brachycephaly is also seen in infants with Downsyndrome, Brachmann-de Lange syndrome, and clei-docranial dysostosis due to flattening of the occiput.

Figure 1.18. Lateral view of the head of the same infantwith craniosynostosis of the coronal sutures. Note theshort, round appearance of the head and the flat occiput.

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Figure 1.19. Trigonocephaly is due to prematurefusion of the metopic suture and is representedclinically by a triangular-shaped head. This condi-tion may occur in utero or in the first months oflife. It may occur in otherwise normal infants, butis also seen in infants with chromosomal anom-alies or the median cleft syndrome.

Figure 1.20. Another example of less severetrigonocephaly.

Figure 1.21. Note the asynclitism of the skull (plagio-cephaly) associated with premature fusion of a single coronalsuture. Plagiocephaly (oblique-shaped skull) occurs with pre-mature fusion of a single suture (such as the coronal or lamb-doidal) or with a congenital postural deformity. There isflattening of the diagonally opposite corners of the head (e.g.,the right frontal and left occipital areas). In more severe cases,asymmetry of the facial features may also be seen. If plagio-cephaly occurs as a result of a deformation, it is transient andcorrects spontaneously. The combination of plagiocephalyand torticollis is well recognized.

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Figure 1.22. Kleeblattschädel (“cloverleaf ”skull) is the result of premature fusion of the sagit-tal and coronal sutures. There is a trilobed appear-ance of the skull with indentations in the centerand in the temporal regions. The ears are low setand the nasal bridge is depressed. This conditionmay occur in otherwise normal infants but is alsonoted in skeletal dysplastic conditions such asthanatophoric dwarfism.

Figure 1.23. Another example of a “cloverleaf”skull. The brain is forced to grow through theanterior and temporal fontanelles resulting inupward and lateral growth.

Figure 1.24. A frontal radiograph of “cloverleaf” skull in aninfant exhibiting thanatophoric dwarfism.

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Figure 1.25. Lateral radiograph of the skull of thesame infant as in Figure 1.24 with “cloverleaf” skulland thanatophoric dwarfism.

Figure 1.26. In this infant with Apert’s syn-drome (acrocephalosyndactyly), note the highsteep frontal bone, protruding forehead, flatmidface, small pinched nose, and the down-ward slanting of the palpebral fissures. Theacrocephaly is due to premature fusion of thecoronal sutures, resulting in bilateral coronalcraniosynostosis. This infant also had the typ-ical finding of a high arched palate.

Figure 1.27. A lateral view of the head of the same infant. Again notethe high steep frontal bone, protruding forehead, flat midface, smallpinched nose, and the downward slanting of the palpebral fissures.

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Figure 1.28. Superior view of the head of the sameinfant demonstrates turribrachycephaly (“tower”skull) which has occurred as a result of craniosynos-tosis of the coronal sutures. Note the ridges result-ing from the fused sutures. The malformation of theskull occurs as a flattening of the frontal and occip-ital bones.

Figure 1.29. The same infantshows the characteristic symmetri-cal syndactyly which involves thetoes. The fingers were similarlyaffected.

Figure 1.30. Another view of the symmetrical syndactylyof the toes in the same infant.

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Head and Neck 11


Figure 1.31. Another example of acro-cephalosyndactyly in an infant whosemother had the same condition. Note theturribrachycephaly, high steep frontalbones, protruding forehead, flat midface,small pinched nose, and the downwardslant of the palpebral fissures.

Figure 1.32. Lateral view of the same infant. Note theturribrachycephaly with the high steep forehead and notethe syndactyly of the fingers of the left hand.

Figure 1.33. In this figure ofthe same infant, note on theleft the syndactyly of the handand on the right the syndactylyof the foot. These infants havesymmetrical syndactyly.

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Figure 1.34. In infants with Carpenter’s syn-drome (acrocephalopolysyndactyly), the facialappearance is similar to that of infants withApert’s syndrome; in addition, there is polysyn-dactyly. This infant with Carpenter’s syndromeshows the high steep protruding forehead, the flatmidface, the small pinched nose, and the down-ward slanting of the palpebral fissures.

Figure 1.35. Oblique view of the same infantwith Carpenter’s syndrome shows the high steepforehead and turribrachycephaly. Note the ridgesof the fused coronal sutures.

Figure 1.36. Frontaland lateral radio-graphs of the skull inthe same infant showthe premature fusionof the coronal suturesand the turribrachy-cephaly.

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Head and Neck 13


Figure 1.38. Symmetrical polysyndactyly of thefeet in the same infant with Carpenter’s syndrome.

Figure 1.37. The left hand of the same infant as in Figures 1.34-1.36with Carpenter’s syndrome shows the polysyndactyly. Note the extradigit and the syndactyly which presents in the form of webbing.

Figure 1.39. Radio-graphs of the feet andthe right hand in the same infant withCarpenter’s syndrome.

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Figure 1.40. This neonate presented withthe typical features of Crouzon’s disease(craniofacial dysostosis). Note the de-formed skull due to craniosynostosis of thecoronal, sagittal, and metopic sutures.There is an antimongoloid slant to the eyes,shallow orbits with hypertelorism andhypoplasia of the facial bones. The nose isshort with a low bridge. There is a shortupper lip with a protruding lower lip. Theseinfants may later develop exophthalmos.

Figure 1.41. Lateral view of the same infant. Note thebrachycephaly, high forehead, shallow orbits, andhypoplastic maxilla. This gives the appearance of a“dished-in” facies. The mandible may appear to be prog-nathic in contrast. Radiographs of the skull of theseinfants show premature synostosis with shortening of thebase of the skull and narrowed optic foramina. Surgicaltreatment is essential.

Figure 1.42. A 3-month-old infant with Crouzon’sdisease. Note the previous findings but in additionthere is exophthalmos. Exophthalmos is not usuallypresent at birth but develops later.

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Head and Neck 15


Figure 1.43. A flat facies is seen inmany syndromes. It should be recog-nized that normal infants, such as thisneonate, may present with the sameappearance. Note the prominent fore-head, flat nose and mild micrognathiawhich results in the flat facies.

Figure 1.44. This normal infant has what appears to be adepressed nasal bridge. The mother had the same facies.Bulging over the nasal bridge, which appears when theinfant cries may indicate the presence of an anteriorencephalocele.

Figure 1.45. When too much tissue develops in (ormigrates into) the upper midfacial zone it causes varyingdegrees of frontonasal dysplasia. The nasal bridge is broad,and extreme hypertelorism is always present. In severe casesthere may be several centimeters of separation, with aber-rant formation of the philtrum and upper lip (such as anextremely short philtrum and a tented upper lip). Thisinfant is an example of a median cleft nose (frontonasal dys-plasia). Note the prominent epicanthic folds. Althoughnasal clefting may be a normal variant, prominent midlineclefting may be associated with holoprosencephaly, as partof the median cleft syndrome, and thus requires a diagnosticevaluation. CT scan in this infant confirmed the presence ofholoprosencephaly.

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Figure 1.46. Note the mediannasal pit in this infant. Aswith any midline lesion on thehead or back, one shouldcheck to be sure this does notrepresent the end of a tractthat communicates with thecentral nervous system.Danger signs include hairsimplanted in the pit, fluidemerging from its depths orany underlying bony defect orcystic mass.

Figure 1.47. Lateral nasal clefts may occurin otherwise normal infants.

Figure 1.48. A more severe example of a lateral nasal cleft in an otherwisenormal infant.

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Head and Neck 17


Figure 1.49. Although lateralnasal clefts, in general, are isolatedfindings, this infant in addition tothe cleft had Holt-Oram syndrome(heart disease, in this case coarcta-tion of the aorta, and absence ofleft radius and thumb).

Figure 1.50. In this infant withbilateral clefting of the alae nasi,the philtrum is long and smoothbecause of the short nose. Note thedownslanting palpebral fissures.There were bilateral cloudycorneas and congenital cataracts, alarge anterior fontanelle and largemetopic sutures. Karyotype wasnormal and MRI of the head wasnormal.

Figure 1.51. Proboscis lateralis is a congenital abnormality in which thenose fails to develop normally.

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Figure 1.52. Severe midline nasalschistasis. This was confirmed to be acommunicating encephalocele onCT scan.

Figure 1.53. This infant has themedian cleft syndrome. Note thefacial features which include mediancleft lip, nasal depression, hypo-telorism, receding forehead, andmicrocephaly. A median cleft palatewas also present. These findingscommonly occur with alobar holo-prosencephaly as a result of underde-velopment of the brain. Themajority of cases of holoprosen-cephaly are sporadic and may occuras an isolated anomaly, in associa-tion with chromosomal abnormali-ties (13, 13q–, 18p–), all in syndromesassociated with arhinencephaly orholoprosencephaly.

Figure 1.54. Lateral view of thesame infant shows the microcephaly,receding forehead and chin, markedhypotelorism, and median cleft.

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Figure 1.55. Another example of the median cleft syndrome with anormal karyotype and a head ultrasound showing holoprosencephaly.The close-up view shows clefting of the alveolar ridge which is also seen in this syndrome. Holoprosencephaly results from maldevelopment of the forebrain (prosencephalon). It may occur as an alobar type in which there is ahorseshoe-shaped single ventricle; a semilobar type in which there ispartial differentiation of the ventricles, especially at the temporo-occipital horns; or a lobar type in which there is partial fusion of thefrontal lobes and a narrow body of the lateral ventricles.

Figure 1.56. Another example of the median cleftsyndrome in an infant with trisomy 13. Note thehypotelorism and midline position of the cleft lip.Embryologically this differs from the more commonunilateral or bilateral cleft lip.

Figure 1.57. Note the midline hypopigmentation of the philtrumwith lack of true clefting of the lip. This finding suggests that furtherevaluation should be done. Central nervous system evaluationrevealed holoprosencephaly.

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Figure 1.58. Notching of the alveolar ridge inthe same infant as in Figure 1.57 with mediancleft syndrome.

Figure 1.59. Holoprosencephaly may have otherclinical manifestions. This infant is an example ofcyclopia without a nose or proboscis. In cyclopiathere may be a single, double or absent proboscisabove or below the fused orbits. Note the markedhypotelorism resulting in fused eyes (cyclopia),lack of nose, and small median cleft of the upperlip. There is also severe microcephaly.

Figure 1.60. This is an exampleof cyclopia with a superior pro-boscis. Note the median cleft inthe single fused lower eyelids,the fused orbits, and thehypoplasia of the facial bones.This is another example ofmedian cleft syndrome withholoprosencephaly.

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Figure 1.61. In holoprosencephaly whenthere are separate orbits with a proboscisabove the eyes and a lack of nostril with asingle or double proboscis above or belowthe eyes, the condition is called ethmo-cephaly. Note also the small mouth.

Figure 1.62. Another variant of the median cleft syndrome (holoprosen-cephaly) is cebocephaly in which there is a small nose with a single nostrilabove or below the eyes. Note the single orifice and aplasia of the nasal sep-tum and philtrum.

Figure 1.63. Buccal fat pads(sucking cushions) are pads of fattissue between the fibers of themasseter muscle. When the infantis sucking they prevent collapsingof the cheeks during indrawing.These fat pads remain unaltereddespite loss of adipose tissue inother body areas.

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Figure 1.64. Sucking blisters (sucking calluses) on thelips are present in the newborn infant. From birth, thelips show a sharp line of demarcation where the skinmeets the mucosa. The mucosa is slightly elevated,moist, glistening deep red or purple and ends abruptlywith the skin which forms one-third of the visible lip.The term “sucking calluses” is a misnomer becausethey are not callosities due to pressure or friction. Theyhave been seen at their most florid in infants who havenever sucked (for example those with congenital heartdisease). Efficient sucking requires a complete seal ofthe lips around the nipple, hence the development ofthese calluses.

Figure 1.65. Another example of sucking blisters inan infant at 6 days of age. Note that the mucous mem-brane portion of the lip has a superficial furrowedappearance. With time, the outer layer dries with lift-ing and shedding of the cornified epithelium and newblisters may develop for a few weeks. They occur mostcommonly in breast-fed infants or babies who feed vig-orously. Pathologically, this can also occur from over-heated formula, or as an allergic reaction to thecomponents of the nipple or the formula.

Figure 1.66. A thin vermilion border of the upper lipin a normal infant. This may also be seen in many syn-dromes such as the fetal alcohol syndrome.A long philtrum may indicate a short nose and a shortphiltrum may indicate a long nose. Downturned cor-ners of the mouth may reflect overgrowth in the widthof the upper lip, which when combined with a shortphiltrum or thick lower lip results in a carp-like mouth.

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Figure 1.67. This infant is an exam-ple of microstomia occurring as aresult of excessive merging of themaxillary and mandibular processesof the mandibular arch. This mayoccur in normal infants or is associ-ated with many syndromes such asHallermann-Streiff syndrome andFreeman-Sheldon syndrome. Thediagnosis in this infant was mosaictrisomy 8.

Figure 1.68. This infant with severebilateral macrostomia is an exampleof a congenital lateral or transversefacial cleft which results from mal-formation of the mandibular arch(failure of the lateral maxillary andmandibular processes to merge). Thedefect may be unilateral or bilateraland is associated with deformities ofthe outer ear, hypoplasia of themandible or maxilla, and cleft palate.It is also seen in Goldenhar’s syn-drome.

Figure 1.69. A lateral view of thesevere macrostomia in the same in-fant. Note the micrognathia. Therewere no other abnormalities.An oblique facial cleft (orbitofacialfissure) extends from the upper lip tothe medial aspect of the orbit. It isoften bilateral and may involve theorbit, nose, lacrimal ducts, or centralnervous system. This may occur fromfacial clefting that results from swal-lowed amniotic bands and representsa disruption in that it does not followthe normal planes of fusion of theface.

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Figure 1.70. Right-sided unilateral macrostomia in an other-wise normal infant.

Figure 1.71. This infant with Goldenhar’s syndrome has uni-lateral macrostomia. There was an antimongoloid slant to theeyes, preauricular skin tags, and deafness.

Figure 1.72. Macrostomia with cutaneous tags and preauric-ular skin tags. Cutaneous pits and tags may be found along aline connecting the oral commissure and the external auditorycanal in Goldenhar’s syndrome.

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Figure 1.73. Eruption cysts in an infant at birth. Note the cen-tral lower incisors which are visible. The teeth erupted at the ageof 4 days.

Figure 1.74. In the upper figure, note the eruption cysts which werepresent at birth. At the age of 7 days, both lower central incisors haderupted (lower figure). Nearly all neonatal teeth arise from the nor-mal deciduous complement and are usually only immature caps ofenamel and dentine with poor root formation. Often the eruptioncyst is present on the gum at birth and the neonatal tooth appearsshortly afterwards. The lower central incisors are the most commonsite for neonatal teeth.

Figure 1.75. Natal teeth present at birth. Teeth thaterupt after birth are neonatal teeth. These teeth havea familial pattern of occurrence and are more commonin certain races such as American Indians andEskimos. Neonatal teeth may occur in association withsyndromes.

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Figure 1.76. Note the poor devel-opment of this natal tooth. Thisshould be extracted, as this may fallout spontaneously and be aspirated.

Figure 1.77. Natal teeth present atbirth in a very low birthweight infant(weight 700 g).

Figure 1.78. Discoloration of a natal toothsecondary to maternal treatment with tetracy-cline during pregnancy.

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Figure 1.79. Neonatal teeth causing ulcera-tion of the undersurface of the tongue by vig-orous sucking (Riga-Fede disease). Neonatalteeth are more likely to cause this because themucous membranes are still very delicate.These teeth require extraction to permit heal-ing of the ulceration.

Figure 1.80. Lateral radiograph of the skull. Note theneonatal teeth.

Figure 1.81. Radiograph of the face and chest show-ing the lack of dentition in a term infant with ecto-dermal dysplasia. Normally, at term there should bemineralization of the incisors and of the first andsecond molars.

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Figure 1.82. A baby with a right unilateral cleft lip anda cleft palate. Note the eruption cyst in the upper jaw.In general, neonatal teeth are more common in thelower jaw, but in the presence of a cleft lip and/or cleftpalate, neonatal teeth are often present in the upperjaw.

Figure 1.83. This infant with a left cleft lipand cleft palate has a neonatal tooth in theupper jaw.

Figure 1.84. If a central eruption cyst or centralmandibular incisor is present in the lower jaw, thediagnosis of median cleft syndrome must be excluded.This infant had median cleft syndrome. A singlecentral maxillary incisor also may be seen in growthhormone deficiency.

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Figure 1.85. In this infant withneonatal teeth, note the smallwhite hamartomatous masses onthe ventral and dorsal surfaces ofthe tongue and the ankyloglossia.These findings are typical of theorofaciodigital syndrome, Type I.

Figure 1.86. Frenulum (frenum)labialis superior. The frenulum is acontinuation of the fibrous medianraphe of the maxilla. It may beprominent and unusually thick andis often associated with deepnotching of the alveolar ridge ofthe maxilla.

Figure 1.87. Lingual ankyloglos-sia (“tongue tie”) in a prematureinfant (birthweight 1700 g). Notethe indentation of the tip of thetongue. The lingual frenulum lim-its the movement of the tip of thetongue. True tongue tie is rare. Ifthe tongue can be protrudedbeyond the lips, no intervention isnecessary as the tongue growsmore rapidly than the frenulumand soon becomes freely mobile.

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Figure 1.88. The lingual frenulum maybe thick and short, and may be continu-ous through an alveolar notch to producea dimpled or bifid tongue. Usually this isof no consequence. In this infant withorofaciodigital syndrome, in addition tothe short frenulum, there is gum hyper-trophy and a hamartoma. There was syn-dactyly of the second and third toes.A thickened lingual/labial frenulum mayresult in a wide space (diastema) betweenthe central incisors. As the canines beginto erupt at 9 to 11 years of age, division ofthe thickened frenulum allows the gap toclose.

Figure 1.89. In Ellis-van Creveldsyndrome (chondroectodermal dys-plasia) one of the typical findings ispresent in the mouth. There is adefect in the upper lip due to fusion ofthe labiogingival margins of the upperlip so that there is no mucobuccal sul-cus. Note the compartments for theindividual tooth buds can be seen onthe alveolar ridges.

Figure 1.90. Another infant withEllis-van Creveld syndrome showingthe typical changes in the mouth. Onthe left, note the defect particularly inthe middle of the upper lip in whichthere is fusion at the maxillogingivalmargin to the upper lip so that there isno mucobuccal sulcus. Also note thehypoplastic neonatal teeth in theupper jaw in the figure on the left andin the lower jaw in the figure on theright.

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Figure 1.91. The components for eachindividual tooth bud can often be seenon the alveolar ridges of the maxillaand mandible in normal infants. Notethe milia on the nose and the demarca-tion on the lip where the skin meets themucous membrane. The sucking cal-luses occur on the mucous membranepart of the lip and are most prominenton the central portion.

Figure 1.92. Gum hypertrophy in aninfant born to a mother treated withphenytoin during pregnancy.

Figure 1.93. Epithelial pearls are areaswhere the cells are condensed in whorlsor small cysts. These are most often seenin the mouth. The most common arecalled Epstein’s pearls which consist of asmall cluster of whitish-yellow swellingsat the junction of the soft and hardpalate in the midline.

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Figure 1.94. Note the Bohn’s nodules (inclusion cysts) on thealveolar margin in this infant. Epithelial pearls are also seen on theareola or on the foreskin.

Figure 1.95. Note the inclusioncysts on the tongue and theEpstein’s pearls.

Figure 1.96. Another example of inclusion cysts which are larger.Epstein’s pearls, Bohn’s nodules, and inclusion cysts all improvespontanteously.

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Figure 1.97. Note the mucoceles on the lower lip ofthis premature infant (birthweight 1200 g). Mucocelesare not true cysts but rather collections of mucus sur-rounded by connective tissue. They usually occur onthe lower lip, are not common, and require no treat-ment. Differential diagnosis includes herpetic lesions.

Figure 1.98. Congenital epulis may occur as a small orvery large mass that protrudes from the mouth as alarge tumor. They may be pedunculated and are of firmconsistency. They usually occur in the region of themaxillary alveolar mucosa and are a form of embryonalhamartoma. A large epulis needs excision and rarelyoccurs.

Figure 1.99. This bluish fluctuant transparentswelling in the anterior part of the floor of the mouthis a ranula which is a retention cyst arising from thesublingual gland. The term ranula originates from itssimilarity to the inflated bladder of a frog’s throat.Ranula is a diminutive of Rana species of frog. Largeranulas need excision but the smaller lesions resolvespontaneously. Note the diastema in the upper jaw.

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Figure 1.100. Traumatic ulcer onthe lower lip of a neonate as a resultof orotracheal intubation for resus-citation.

Figure 1.101. Aglossia and cleftpalate in an otherwise normalinfant. Aglossia occurs more fre-quently in the aglossia/hypoglossiaadactylia syndrome. Due to theabsence of a normal tongue, notehow easily the cleft palate is seen.On the buccal mucosa note the oralcandidiasis (thrush).

Figure 1.102. Note the smallhypoplastic tongue (hypoglossia)posteriorly in this otherwise normalinfant. This condition is more com-monly associated with digitalanomalies in the aglossia/hypoglos-sia adactylia syndrome.

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Figure 1.103. Macroglossia in an otherwise nor-mal infant. The most common cause of macroglos-sia is idiopathic hypertrophy of the muscles of thetongue.

Figure 1.104. Macroglossia associated withBeckwith-Wiedemann syndrome. These infantshave exomphalos (omphalocele or large umbili-cal hernia), macroglossia, and gigantism (EMGsyndrome).

Figure 1.105. Another infant withBeckwith-Wiedemann syndrome showingthe protrusion of the tongue with macroglos-sia. Note the other characteristic finding of atransverse crease of the earlobe.

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Figure 1.106. Macroglossia in a 2-month-old in-fant with Type II glycogen storage disease (Pompe’sdisease). Macroglossia is also seen in infants withcongenital hypothyroidism and hemangioma orlymphangioma of the tongue.

Figure 1.107. Macroglossia associated withunilateral hypertrophy of the right side of thetongue. This may be idiopathic or due to ahemangioma or lymphangioma of the tongue.

Figure 1.108.Atrophy of the left sideof the tongue in aninfant with Poland’sanomaly and Möbius’syndrome. The associ-ation of these twoconditions is not un-common.

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Figure 1.109. This infant with alarge cystic mass of the tongue pre-sented with severe respiratory dis-tress. A preoperative thyroid scanwas normal. The mass was resectedand a diagnosis of an enterocys-toma of the tongue (gastric dupli-cation cyst) was made. The infantdid well following removal of thecyst.

Figure 1.110. In the same infant, on the left note the largecystic swelling of the enterocystoma of the tongue. The figureon the right shows the transillumination of the cyst post-operatively.

Figure 1.111. This infant pre-sented with moderate respiratorydistress and was noted to have alarge cyst, especially on the left sideat the base of the tongue. The cystwhich was removed was diagnosedas an epithelial cyst in that it waslined by squamous epithelial cells.

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Figure 1.112. The large cystic midlineswelling of the tongue in this infant washistologically diagnosed as a large thy-roglossal cyst which was benign andlined by columnar epithelial cells.

Figure 1.113. This well-circumscribed mass on the tonguewas surgically removed and a diagnosis of hemangioma wasmade.

Figure 1.114. This infant atbirth presented with a tumorinvolving the midmandible andfloor of the mouth. The massdivided the tongue which wasthickened and foreshortened.There was an associated mid-facial cleft with a dermoid of the upper palate. With this typeof defect a median cleft should be excluded. Tests for this werenormal.

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Figure 1.115. A mass involving the tongue was noted atbirth in this term infant. Upon surgical removal, the diagno-sis of teratoma of the tongue was confirmed. This was abenign teratoma and the infant did well.

Figure 1.116. The large mass in the posteriormouth and nasopharynx in this term infant, with a cleft palate, was friable and bled easily. At sur-gery it was found to be a benign teratoma of thenasopharynx.

Figure 1.117. Cleft lip may be unilateral or bilat-eral and is often associated with a cleft palate. Thisnormal infant has a mild unilateral cleft lip with anormal palate. The nose is flattened on the affectedside. Cleft lips and palates may be seen in otherwisenormal infants or in infants with syndromes orchromosomal abnormalities.

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Figure 1.118. An example of aunilateral cleft lip with a normalpalate in an infant with thepopliteal pterygium syndrome. Notethat the upper lip is indented to theleft of the philtrum and the nose isflattened, but the defect does notextend into the alveolar process.

Figure 1.119. A mild bilateralcleft lip in an otherwise normalinfant. In partial or complete uni-lateral or bilateral cleft lip, the lineof clefting is paramedian and fol-lows the ridge at either side of thephiltrum.

Figure 1.120. A unilateral cleft lipand cleft palate in an otherwise nor-mal infant. The unilateral cleft liphas extended to the nostril, which isflattened and deflected. Cleft lipand palate occur in many syndromessuch as trisomy 13 and the ectro-dactyly-ectodermal dysplasia-cleft-ing syndrome (EEC syndrome).

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Figure 1.121. Cleft palate in aninfant with a unilateral cleft lip.Note the splitting of the uvula.

Figure 1.122. Bilateral cleft lipand cleft palate with a severe totalcleft palate and incomplete bilat-eral cleft lip. A midline nubbin oftissue is seen attached to the col-umella of the nose. This representsthe remnant of the intermaxillarysegment, the unpaired medianstructure that normally wouldhave formed the floor of thephiltral groove, the center of theupper alveolar ridge, and the pri-mary palate.

Figure 1.123. In the same infantthe cleft palate is clearly demon-strated. Note the protrudingvomer.

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Figure 1.124. Cleft palate in an otherwise normalinfant. An isolated cleft palate (either the softpalate, hard palate, or both) occurs more frequentlyin females and is commonly associated with otherabnormalities (such as Robin’s anomalad).

Figure 1.125. A high arched palate in a nor-mal infant. This may occur in association withother congenital anomalies or may occur iatro-genically, secondary to prolonged orotrachealintubation.

Figure 1.126. A high arched palate in an infant with a cleftof the soft palate.

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Figure 1.127. On the left, note the marked microstomia andon the right note the cleft palate, in an infant with a mosaictrisomy 8.

Figure 1.128. The normal earshows many variations in the foldsin relation to the cartilage. Forexample, in this infant poor devel-opment and deformations causedtransient abnormalities in theappearance of the ears.

Figure 1.129. Normal ears with lack of goodcartilage development may appear as large flat-tened ears bilaterally. These are often caused byprolonged intrauterine compression as a result ofoligohydramnios.

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Figure 1.130. An overturned helix (a folded ear)is usually a temporary deformation secondary toin utero position.

Figure 1.131. Another example of a foldedhelix due to in utero position.

Figure 1.132. Positional deformation of a normal ear sec-ondary to the presence of pressure of the infant’s shoulder onthe lobe of the ear in utero. Note that the pinna is crumpledupward and forward.

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Figure 1.133. This is an example of aninfant with a lop ear. Weakness or absence ofthe auricular muscles result in various defor-mities of the auricle. When the superiormuscle band is absent, a lop ear occurs. Ifonly the posterior slip is missing, a protrud-ing ear is seen. If both muscle bands areabsent, a cupped ear is formed. These char-acteristic abnormalities of the auricle aremore commonly seen in infants with severehypotonia.

Figure 1.134. Poor development of the ear can beseen in association with a lack of or decreased fetalmovement.

Figure 1.135. In this infant with Potter’ssyndrome note the slanted and low-set ear.Ears are considered slanted when the angle of slope of the auricle exceeds fifteen degreesfrom the perpendicular. Low placement andslanted auricles often go together and usuallypresent a lag in morphogenesis. Low-set ears are defined as those where thehelix meets the cranium at a level below thatof a horizontal plane with the corners of theorbit. The presence of low-set ears can bedetermined by extending a line joining bothinner canthi. This accounts for any upward ordownward slanting of the eyes. The illusion oflow ear placement can be created by an unusu-ally large head as is seen in hydrocephalus or bya small external ear. The pseudohydrocephalus(catch-up growth of the head) in very lowbirthweight infants may create the impressionof low-set ears in an otherwise normal infant.

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Figure 1.136. Poorly folded small and posteri-orly angulated ears occurred with decreased fetalmovement in this infant with the fetal akinesiasyndrome.

Figure 1.137. Note the attenua-tion and backward sweep of theupper helix in the ears of thisinfant. This is called the Mozartear as it is said to have been pre-sent in Mozart and his family.

Figure 1.138. Lack of normal development of the lobule of the ear.

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Figure 1.139. Transverse earlobe creasesare a feature of some syndromes as in this infant with Beckwith-Wiedemannsyndrome.

Figure 1.140. This otherwise normal infant had bilat-eral cleft ear lobes. This occurs as a result of incompletefusion between the most medial embryonic hillocks.

Figure 1.141. Preauri-cular pits in an other-wise normal infant. Themother had the samefindings. Preauricularpits and preauriculartags occur in about 1%of individuals and are twice as common in females and morecommon in black infants.They are believed torepresent remnants ofearly embryonic bran-chial cleft or archstructures.

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Figure 1.142. There were bilateralpits on the lobes of the ears in thisotherwise normal infant.

Figure 1.143. Preauricular skin tag in an otherwise normalinfant. These skin tags often contain a core of cartilage andappear to represent accessory hillocks of His. Hillocks nor-mally develop in the recess of the mandibular and hyoid archesand coalesce to form the auricle.

Figure 1.144. Multiple preauricular skin tags in an infant with anormal ear. Note that skin tags may be pedunculated.

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Figure 1.145. Preauricular skin tags in an infant with cupping of the ear.

Figure 1.146. Preauricular skintags and skin tags along a line con-necting the oral commissure withthe external auditory canal areseen in syndromes involving thefirst and second branchial arch, asin this infant with Goldenhar’ssyndrome.

Figure 1.147. This infant exhib-ited abnormal ears with skin tagsand a fistula. Abnormal ears, fistu-lae, and skin tags are seen morecommonly in the first branchialarch syndrome as this infant withTreacher-Collins syndrome.

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Figure 1.148. Microtia with atresia ofthe external auditory canal on the rightside in an otherwise normal infant.Hypoplasia of the pinna or microtia(“small ear”) is the most common iso-lated intrinsic malformation of theauricle. When microtia is unilateral, theright side is more commonly involved.The spectrum of this abnormality rangesfrom a small but structurally normal ear,through remnants of cartilage and skinsurrounding a small external auditorycanal, to total absence of auricularstructures.

Figure 1.149. Bilateral microtia withatresia of the external auditory canals inan infant with Nager’s acrofacial dysosto-sis syndrome. Varying degrees of microtiaoccur in syndromes involving thebranchial arches such as Treacher-Collins, and Goldenhar’s syndrome, andNager’s syndrome (acrofacial dysostosis).

Figure 1.150. Bilateral microtia withabsence of external auditory canals in theinfant of a mother treated with retinoicacid during the first trimester of preg-nancy.

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Figure 1.151. In this premature infant of 29 weeks’ gestation and birthweight1120 g there is a branchial arch embryopathy resulting in agnathia, microsto-mia, and small posteriorly positioned hypoplastic tongue. The ears are very lowset and the lower lobes may be fused to the neck which was short and thin.Aural ascent does not occur due to the lack of development of the jaw, hencethe low position of the ears. These infants typically have hypoplastic lungs.(C.Langston)

Figure 1.152. Another ex-ample of agnathia. Note thelow-set ears and microstomia.Hydrocephalus and congenitalheart disease are commonly pre-sent in branchial arch embry-opathy. (C.Langston)

Figure 1.153. This infant with severe micrognathia hadsignificant respiratory distress. Micrognathia is mostcommonly familial or idiopathic, but many syndromesare associated with this finding.

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Figure 1.154. A lateral view ofthe same infant as in Figure 1.53showing the marked microg-nathia.

Figure 1.155. Severe micrognathia in an infantwho had a small cleft palate (Robin’s anomalad).This infant had respiratory distress and majorproblems with feeding.

Figure 1.156. Feeding wasaccomplished in the same infantby the use of a lamb’s nipple.

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Figure 1.157. Marked micrognathia in aninfant with Treacher-Collins syndrome(mandibulofacial dysostosis). In addition tothe micrognathia, note the antimongoloidslant of the eyes, prominent nose, and malarhypoplasia.

Figure 1.158. Micrognathia in an infant withGoldenhar’s syndrome (hemifacial microsomia). Inaddition, note the preauricular skin tags, unilateralmacrostomia, and skin tags due to the extra branchialarch anomalies.

Figure 1.159. A congenitalmidline cervical cleft is arare developmental anom-aly. It represents failure ofthe branchial arches to fusein the midline. It most com-monly affects females, andpresents at birth with a ven-tral midline defect of theskin of the neck. A reddenedweeping strip of atrophicskin approximately 5 mm inwidth may occur at any levelbetween the chin and ster-nal notch. Often there is anipple-like projection at theupper end of the fissure andan associated sinus tract atthe caudal end which maydischarge mucoid material.This condition may be mis-interpreted as a branchialcleft anomaly or thyroglossalduct cyst.

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Figure 1.160. Another example of a congenital mid-line cervical cleft. Note the characteristic nipple-likeprojection, atrophic skin defect, and caudal fistuloustract. This may become a fibrous “cord” and result in aweb-like contracture. This must be differentiated froma thyroglossal duct cyst/sinus which develops if the thy-roglossal duct fails to close after the descent of the thy-roid gland into the lower neck. It can occur anywhereon a line connecting the sternal notch and the base ofthe tongue.

Figure 1.161. When delivery has involvedexcessive rotation or gross lateral rotation of theneck, a lump may appear in the sternomastoidmuscle (sternomastoid tumor). This usuallybecomes apparent in the second week of life andcommonly is situated in the lower half of themuscle. It may enlarge before resolving sponta-neously, and may result in torticollis as a result ofcontraction of the sternomastoid muscle causingflexion of the head toward the side of the lesion.This condition must be differentiated from supe-rior oblique palsy (IVth cranial nerve palsy) byan ophthalmologist.

Figure 1.162. Abnormal development of the branchial clefts andarches may result in remnants, fistulae or cysts. Defects are usuallyunilateral and the external opening lies at the anterior edge of thesternocleidomastoid muscle, usually at the lower third. Secondarybacterial infection and cyst formation may occur. In this infantthere is a branchial cleft remnant.

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Figure 1.163. The subtle finding of a branchial sinusmay be missed if examination of the infant is notthorough.

Figure 1.164. Branchial remnants tend tooccur along the course of the sternomas-toid muscle.

Figure 1.165. The large cystic hygroma (lymphan-gioma) presented in this infant as a large soft fluctuat-ing mass. These are located most commonly in theneck and consist of proliferation of lymph vessels.Although not malignant, they may spread over theneck with extension into the mouth.

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Figure 1.166. A large cystic hygroma involvingthe right side of the neck and face with exten-sion into the mouth. The mass compromised res-piration in this infant. Such masses in the neckshould be differentiated from thyroglossal ductand cervical cysts.

Figure 1.167. Transillumination of the cystichygroma in the same infant.

Figure 1.168. The large masspresent at birth in the cervicalarea of this infant causedsevere respiratory distress. Itwas a malignant teratoma ofthe neck.

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Figure 1.169. The surgical specimen ofthe mass of the same infant showedmixed yolk sac and embryonal rem-nants.

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Chapter 2Ophthalmology†

Blinding diseases can destroy useful vision unless rapidly diagnosed and treated. The initial routineexamination of all infants should be carried out by the primary care physician, and should includedirect ophthalmoscopy, and an orderly structural examination to include the eyebrows, lids, andlashes and lacrimal system, conjunctiva, sclera, cornea, iris (note pupils), anterior chamber, lens,vitreous, and fundus (especially optic nerve and macula). Look for symmetry of ocular structures andclarity of optical media (clear cornea, lens, vitreous). The red reflex should be bright andsymmetrical. In all preterm infants ≤1250 g at birth, after an initial period of retinal development(from 4 to 6 weeks of life), an ophthalmologist trained to screen retinopathy of prematurity shouldinitiate regular ophthalmologic examinations until inner retinal vascularization is complete, followthe progression and regression of retinopathy of prematurity (ROP), determine the need for surgicaltherapy for ROP, and follow the infant for the development of refractive errors, strabismus,amblyopia, etc. (all are increased in preterm infants). In any infant suspected of congenitalintrauterine infections, genetic syndromes, family history of eye disease in parents or siblings, severecentral nervous system abnormalities, maternal drug use or abuse, and obvious eye abnormalities orfailure to obtain bilateral red reflexes, an ophthalmology consultation should be considered. The eyesare not completely developed anatomically or functionally at birth and are constantly changingduring the neonatal period. It is important to recognize the normal findings during different stages ofgrowth and understand what is abnormal.

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†Photos and text for Chapter 2 provided by Helen A. Mintz-Hittner, M.D., Clinical Professor, Department ofOphthalmology and Visual Science, The University of Texas Medical School at Houston, and Clinical Professor,Department of Ophthalmology, Baylor College of Medicine, Houston, Texas.


OPHTHALMOLOGIC EXAMINATION OF THE NEWBORN

I. Examination of the Eyes should take placeA. During the initial routine examination (1st day of life) of all infants (by the pediatrician/neonatologist) to

exclude obvious anomalies (must include bilateral red reflexes).B. Following an initial period of stabilization (1st week of life) in all preterm infants ≤ 1250 grams at birth (by

the pediatrician/neonatologist) to exclude obvious anomalies and to assess gestational age. C. Following an initial period of retinal development (from 4 to 6 weeks of life) in all preterm infants ≤1250

grams at birth (by an ophthalmologist trained to screen retinopathy of prematurity [ROP]):1. To initiate regular ophthalmologic examinations until inner retinal vascularization is complete (may not

be to the ora serrata).2. To follow the progression and regression of ROP.3. To determine the need for surgical therapy, which is usually necessary from 32 to 42 weeks postconceptual

age (gestational age + postnatal age), thus ROP occurs early in larger (higher gestational age) infants andlater in smaller (lower gestational age) infants.

4. To follow for the development of refractive errors, strabismus, amblyopia, etc. (all of which are more fre-quent in preterm infants).

D. At any time when any of the following are suspected or proven (by an ophthalmologist):1. congenital intrauterine infections;2. genetic syndromes;3. family history of eye disease in parents or siblings;4. severe central nervous system abnormalities;5. maternal drug use or abuse;6. obvious eye abnormalities or failure to obtain bilateral red reflexes.

II. Examination Techniques and Normal FindingsA. The use of direct ophthalmoscopy and dilating drops (cyclopentolate 0.2% and phenylephrine 1%) is safe

and effective without causing hypertension or bradycardia in all but the smallest and most unstable infants.Hold the eyelids open for a few seconds; blot away excess.

B. A functional examination — for visual acuity, visual field, motility, and refraction — is not part of the rou-tine initial examination. Note that good fixation and following and consistently straight eyes may not bepresent until 6 months of age; however, if there is no visual interest, nystagmus, bilaterally dull red reflexes,asymmetrical red reflexes, or a consistently crossed eye, an examination by an ophthalmologist is recom-mended.

C. During an orderly structural examination, note obvious orbital abnormalities (overview) and then proceedfrom the anterior to the posterior parts of the eye: an external examination includes the eyebrows, lids,lashes, lacrimal system; an internal includes the conjunctiva, sclera, cornea, iris (note pupils), anteriorchamber, lens, vitreous, fundus (especially optic nerve and macula). Look for symmetry of ocular structuresand clarity of optical media (clear cornea, lens, vitreous). The red reflex should be bright and symmetrical.

D. Be aware of the urgency of ophthalmologic examinations:1. To prevent progressive ocular damage (e.g., glaucoma, retinopathy of prematurity, etc.).2. To prevent unilateral deprivation amblyopia due to any unilateral obstruction to the visual axis (lid

tumor, ptosis, corneal clouding such as glaucoma, corneal injury such as forceps, cataract, vitreous hem-orrhage, etc.). Immediately patch both eyes to prevent irreversible severe amblyopia from developing, andrefer to an ophthalmologist as soon as the obstruction is recognized.

3. To prevent bilateral deprivation amblyopia due to any bilateral obstruction to the visual axes (especiallycataracts). Cataract surgery and refractive correction must be completed by 6 weeks postnatal age (in aterm infant) to obtain optimal visual results. Other bilateral obstructions (corneal and vitreal) are lessamenable to surgical correction with optimal visual results; however, refer to an ophthalmologist as soonas the obstructions are recognized. Note: asymmetrical refractive errors can cause relative unilateralrefractive amblyopia; bilateral large farsighted refractive errors can cause relative bilateral refractiveamblyopia.

Figure 2.1. The ocular photograph onthe left shows acute linear cornealedema which is transient but is usuallyassociated with permanent cornealdamage. The ocular photograph on theright shows the same eye, 2 weeks later,with breaks in Descemet’s layer of thecornea which marks the axis of severemyopic astigmatism.

Figure 2.2. On the left is a mark on theface, directly over the eye, indicatingthe exact location that forceps wereapplied. On the right, the eyelids havebeen opened to reveal a partialhyphema caused by damage to the rootof the iris, which resolved without anytreatment or permanent ocular damage.The blood is in the anterior chamber ofthe eye, between the posterior cornealsurface and the anterior iris surface.Blood in the anterior chamber of aneonate usually resolves rapidly withoutany treatment.

Figure 2.3. The mark on the face onthe left indicates that forceps hadslipped between the left eye and thenasal orbital wall. A close-up view ofthe same injury shows that there is a lidlaceration involving the left lacrimaldrainage system. Any laceration involv-ing the lid margin should be repairedsurgically as soon as possible in order toprevent permanent lid notching. Whenthe nasal lid margin is involved, specialattention must be given to repair thelacrimal system to prevent watering ofthe eye.

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TRAUMA (Iatrogenic)


Figure 2.4. These fig-ures are of the opticnerves of the infantshown in Figure 2.3, oneyear later. On the left isthe normal right opticnerve; on the right isthe left optic nervewhich has developedcomplete optic nerveatrophy, related tostretching of the leftoptic nerve occurringwhen the forceps hadslipped between the lefteye and the nasal orbitalwall. As a result, the eyeis totally blind.

Figure 2.5. Subconjunctivalhemorrhages are very commonin the neonate immediately fol-lowing birth. They resolvespontaneously without any con-sequences.

Figure 2.6. Retinal hemorrhages occur frequently in theneonate, especially following vaginal delivery. In somestudies, the incidence of small retinal hemorrhages is ashigh as 25% irrespective of whether the delivery was spon-taneous or required the application of forceps. These retinalhemorrhages resolve spontaneously without any conse-quences. In contrast, hemorrhages into the vitreous gel mayprevent light from getting through to the retina for severaldays or even weeks and will cause a severe, irreversibledeprivation amblyopia.

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Figure 2.7. Chemical conjunctivitis in a premature infant resultingfrom the use of silver nitrate for Crede prophylaxis. Sometimes thisis so severe that it prevents visualization of the eye on the initialexamination in the nursery. This usually improves within 24 to 48hours and an ocular examination should be performed at that time.For prophylaxis, at the present time, different antibiotic prepara-tions have been suggested. However, because of resistant Neisseriagonococcus strains, many centers still use silver nitrate.

Figure 2.8. Trachoma inclusion conjunctivitis (TRIC or chlamy-dial conjunctivitis) usually does not become clinically apparentbefore the 6th day of life. This shows a dense white membranewhich developed over a period of a week. TRIC is one of the fewinfections which cause the formation of conjunctival membranes,shown on the conjunctival surface of the upper eyelid of this eye.Tetracycline and erythromycin have been used for Crede prophy-laxis in some nurseries because of the increasing incidence ofchlamydial infection.

Figure 2.9. Escherichia coli conjunctivitis is pre-sent in this right eye. The most common con-junctivitis in the neonate in the first 24 hours oflife is a chemical conjunctivitis. If the conjunc-tivitis is due to an infection, the most commoncause is Staphylococcus aureus, but many otherorganisms may be responsible. Culture and sensitivity will suggest the appropriateantibiotic therapy.

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INFECTION (Acquired)


Figure 2.10. Neisseria gonorrhoeae: Gonococcal con-junctivitis, which became clinically apparent in thisinfant by the 2nd day of life, developed a purulentdrainage quickly. Neisseria is one of the few organismswhich attack the intact corneal epithelium. Because ofthis ability to cause corneal ulceration with perforationand subsequent endophthalmitis, Neisseria was oncethe most common cause of blindness in infants in thiscountry.

Figure 2.11. Pseudomonas aeruginosa: Corneal ulcerwith perforation in a preterm infant. Pseudomonas isone of the few organisms which attack the intactcorneal epithelium. Because of this ability, cornealulceration with perforation and subsequent endoph-thalmitis may occur in preterm infants. Any preterminfant who is chemically paralysed while on mechani-cal ventilation may develop corneal exposure withsubsequent corneal ulcer. Thus, it is imperative to usea lubricating ophthalmic ointment or to tape the eyesshut in this clinical setting.

Figure 2.12. Candida albicans: Retinitis is seen as smallwhite infiltrates (“cotton-patches”) scattered in the retina.They reflect the high blood flow through the choroidal vas-cular system of the eye and resolve slowly with treatment forsystemic candidiasis.

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Figure 2.13. TORCH disease must be considered withpersistent tunica vasculosa lentis in any small-for-gesta-tional-age infant. This is a grade 3 tunica vasculosa lentisin an infant with congenital rubella who was 35 weeksgestational age and weighed 860 g at birth.

Figure 2.14. TORCH diseases must be considered withunilateral or bilateral microphthalmia in any small-for-gestational-age infant. This is a microphthalmic eye inan infant with congenital toxoplasmosis who weighed2500 g at birth and was 39 weeks gestational age.

Figure 2.15. Rubellaglaucoma is an uncom-mon ocular finding ininfants with congenitalrubella. Glaucomaoccurs in less than 10%of infants with congen-ital rubella and usuallyis transient. It is proba-bly related to inflam-mation.

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INFECTION (Congenital intrauterine: TORCH diseases: Toxoplasmosis,Other, Rubella virus, Cytomegalovirus, Herpes simplex virus)


Figure 2.16. Rubella cataract is the most common ocularfinding in infants with congenital rubella and occurs in up to75% of these infants. Classically, the cataract is nuclear, andthe virus can be isolated from the lens for years followingbirth.

Figure 2.17. Rubella retinitis appears as a salt and pepperretinitis classically and reflects damage to the retinal pig-ment epithelium. It can be present without any decrease invisual acuity.

Figure 2.18. Cytomegalovirus may cause a small macularchorioretinal scar. This is the most typical lesion incytomegalovirus infection.

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Figure 2.19. Toxoplasmosis may cause a large macularchorioretinal scar. This is the most typical lesion oftoxoplasmosis infection, but it is indistinguishableclinically from a large macular chorioretinal scar ofcytomegalovirus infection.

Figure 2.20. Cytomegalovirus was the cause of thislarge macular chorioretinal scar. It closely resemblesthe scar of toxoplasmosis shown in Figure 2.19.

Figure 2.21. Cytomegalovirus may cause a colobomaof the optic nerve. This failure of the fetal fissure tofuse posteriorly may occur in infants with cyto-megalovirus infection. When there is ocular invol-vement in cytomegalovirus infection, there is usuallydamage to the central nervous system.

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Figure 2.22. Cytomegalovirus may cause hypoplasia of theoptic nerve. This lack of development of the optic nervein infants with cytomegalovirus infection may be associatedwith severe damage to the central nervous system.

Figure 2.23. Herpes simplex infection can be devastatingnot only to the eye but to the central nervous system.Occasionally, a superficial herpetic corneal ulcer withedema, as shown in this figure, can allow rapid diagnosis ofherpetic infection with the opportunity to institute systemictherapy immediately.

Figure 2.24. This herpes simplex corneal ulcer withdendrites, shown unstained Figure 2.23, is stained withfluorescein and viewed with a cobalt blue filter. Such acorneal lesion allows early diagnosis. If therapy is begunimmediately, herpes simplex infection does not necessarilycorrelate with severe central nervous system damage.

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Figure 2.25. Herpes simplex can cause a necrotizing chori-oretinitis. It usually appears within the first few days follow-ing birth as macular or peripheral retinal edema.

Figure 2.26. Herpes simplex necrotizing chorioretinitisusually progresses rapidly and usually correlates with severecentral nervous system necrosis. This is the same eye as inFigure 2.25, 4 days later.

Figure 2.27. A dacryocystocele may occur as an auto-somal dominant in families as exemplified by thesetwins. The lacrimal sac is blocked at both ends and asterile swelling appears as a purplish swelling adjacentto the base of the nose. Simple lacrimal probing allowsfor a swift resolution of this problem; however, if thereis anything atypical about the location or the appear-ance of the swelling, an ultrasound of the brain shouldbe obtained to exclude an encephalocele.

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LACRIMAL ABNORMALITIES


Figure 2.28. If a lacrimal cyst becomes infected, theskin overlying the cyst becomes edematous and ery-thematous. Because septicemia, meningitis, and/orcavernous sinus thrombosis may occur, systemicantibiotics are indicated. Following a short period ofantibiotics, probing of the lacrimal system should beperformed.

Figure 2.29. Ankyloblepharon filiforme adnatum isshown in this figure with fusion of the upper and lowereyelids by small filiform attachments which can be cutwith scissors. Blepharophimosis is a narrow palpebralfissure which occurs as a congenital anomaly andshould be included in the differential diagnosis ofankyloblepharon filiforme adnatum.

Figure 2.30. Capillary hemangiomas of thelids most frequently arise nasally from eitherthe superior or the inferior palpebral fissure.They are poorly defined soft swellings of theeyelid with purple (red-blue) discoloration ofthe skin. They require treatment when rapidgrowth threatens the visual axis which canlead to irreversible deprivation amblyopia.

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LIDS

Figure 2.31. Treacher-Collins syndrome is characterizedby malformations of the structures formed from the firstbranchial arch, groove, and pouch. Mandibulofacial dysos-tosis with antimongoloid slanting of the palpebral fissureand coloboma of the lower temporal lid is inherited as anautosomal dominant (5q11) disorder.

Figure 2.32. The coloboma of the lid in the Treacher-Collins syndrome involves the lateral third of the lower lidand may not affect the lid margin. Other lower lid anom-alies such as absent lacrimal punctae and irregular lower lidlashes may also be present.

Figure 2.33. The most common findings of Goldenhar’s syn-drome, which is characterized by hemifacial macrosomia, arecolobomas of the upper lids, solid epibulbar dermoids located at theinferotemporal border of the cornea, and solid lipodermoidslocated in the superotemporal sulcus near the lacrimal gland.Oculoauriculovertebral dysplasia is sporadic and the basic defect isunknown.

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Figure 2.34. The coloboma of the lid in Goldenhar’s syndrome involves themiddle third of the upper lid which does affect the lid margin.

Figure 2.35. This typical dermoid of the Goldenhar’ssyndrome occurs as a solid mass of the conjunctiva at theinferotemporal border of the cornea. Flattening of thecornea occurs in the meridian of the dermoid, causing anassociated astigmatism and occasionally a secondaryamblyopia.

Figure 2.36. This complex choristoma located in thesuperotemporal sulcus of the left eye with the upper lideverted demonstrates the long lashes which may bepresent. This is different from the lipodermoid noted inthe same position in some patients with Goldenhar’ssyndrome.

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Figure 2.37. Fraser’s syndrome is anautosomal recessive disorder whichoccurs when the maturation of the lidsis interrupted and the lid folds fail todevelop. This infant shows completecryptophthalmos by the left lid (surfaceectoderm) with complete coverage ofthe corneal epithelium.

Figure 2.38. This figure demonstratesFraser’s syndrome with partial cryptoph-thalmos. There is a continuation of theleft superonasal lid (surface ectoderm)with the corneal epithelium.

Figure 2.39. The typical confluent eyebrows, long curly eyelashes, and tele-canthus associated with the Cornelia de Lange syndrome are present in thisinfant. Telecanthus is the lateral displacement of the inner canthi such thatthe medial portion of the eye is partially obscured, giving rise to the impres-sion of strabismus and hypertelorism. In hypertelorism the eyes are widelyspaced. Because a low nasal bridge may give rise to the impression of widelyspaced eyes, the distance between the two eyes should always be measured.

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Figure 2.40. Congenital entropion is shown in thispatient with epiblepharon allowing the inturning ofthe lower nasal lid such that the lashes irritate thecornea.

Figure 2.41. Congenital ectro-pion occurs as a result ofintrauterine prolapse of the con-junctiva. This may require tem-porary taping or suturing of thelid margins. In the absence ofmicrophthalmos, buphthalmos,or eyelid defects, primary eyelideversion is rare and follows abenign course. The tarsal con-junctiva is chemotic, hyper-emic, and protrudes outward.The lid returns to normal a fewdays following application ofophthalmic ointment and moiststerile gauze dressings.

Figure 2.42. The same patientshowing a residual right upperlid ectropion after five days ofbilateral pressure patches. If thisoccurs as a unilateral condition,it is essential to tape both eyesclosed to prevent deprivationamblyopia.

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Figure 2.43. Dermoid cystsoccur when surface ectodermalelements are sequestered alongthe closure lines of the fetal bonysutures. These cystic dermoidsdemonstrate the superotemporaland the superonasal locations.

Figure 2.44. These cystic der-moids demonstrate the infero-temporal and the inferonasallocations. They are lined by ker-atinized squamous epithelial cellsand contain hair follicles andsebaceous glands.

Figure 2.45. Exophthalmos andlid retraction occur infrequently.This patient demonstrates thetypical lid signs of neonatalhyperthyroidism. Children withcraniofacial anomalies and shal-low orbits also may demonstratesevere exophthalmos and lidretraction.

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Figure 2.46. This patient demonstrates bilateral ble-pharoptosis, blepharophimosis, and epicanthus inver-sus with normal globes and normal vision which occursas an autosomal dominant. This is distinct from bilat-eral anophthalmia, microphthalmia, or nanoph-thalmia where the globes are not present or small withabsent or impaired vision. The epicanthus is a crescen-tic fold of skin running vertically between the lids overthe inner canthus. It can be most prominent in theupper eyelid (epicanthus tarsalis); most prominent inthe lower eyelid (epicanthus inversus); or equally dis-tributed between the upper and lower eyelids (epican-thus palpebralis).

Figure 2.47. At term birth, thenormal ocular sagittal length is17.5 mm, and the normal cornealdiameter is 10 mm. This is a terminfant with very severe bilateralmicrophthalmia. The globes arevirtually absent and the infant istotally blind. This may occur uni-laterally or bilaterally and is oftenassociated with other anomaliesof the central nervous system.

Figure 2.48. This is anotherterm infant with severe bilateralmicrophthalmia. The globes aresmall, and vision is extremelypoor. There are several forms ofmicrophthalmia including thoseassociated with congenital infec-tion, chromosomal abnormalities,and the CHARGE syndrome.

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OCULAR SIZE

Figure 2.49. Colobomatous microph-thalmia may be inherited as an autosomaldominant disorder with extremely vari-able expressivity. On the left is severemicrophthalmia presenting as a cysticeye. On the right is a coloboma of theoptic nerve with continuous coloboma ofthe choroid and retina which was presentin another member of the same family.

Figure 2.50. On the left is aminimal coloboma of theoptic nerve with peripheralcoloboma of the choroid andretina in another member ofthe same family. On the rightis a very minimal coloboma ofthe choroid and retina adja-cent to the normal opticnerve in a member of thesame family who was totallyunaware that she carried thegene for autosomal dominantcolobomatous microphthalmia.

Figure 2.51. When the structures of the anterior seg-ment are subdivided according to their embryonic layerof origin, various patterns emerge. In this figure, theneuroectoderm, consisting of the anterior rim of opticcup, iris pigment epithelium and pupillary musculatureis shown in red; the 1st neural crest mesenchymal wave(corneal endothelium and trabecular meshwork) isshown in black; the 2nd neural crest mesenchymal wave(corneal stroma) is shown in yellow; and the 3rd neuralcrest mesenchymal wave (iris stroma) is shown in green.

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ANTERIOR SEGMENT (Cornea, iris, and trabecular meshwork [glaucoma])


Figure 2.52. Peters anomaly is shown in this figure.Corneal clouding is marked because corneal endothe-lium is abnormal, and glaucoma is common becausethe trabecular meshwork may be altered. This photo-graph demonstrates severe corneal clouding whichwould justify a penetrating corneal transplant in atleast one eye of a bilaterally affected infant eventhough the prognosis for a successful corneal trans-plant in infants is poor.

Figure 2.53. Anterior segment mes-enchymal dysgenesis in one memberof an autosomal dominant (4q28-31)family with variable expressivity isshown in this figure. On the left is aneye with a large area of severe cornealclouding. On the right, the same eyedemonstrates the adhesions of the iristo the corneal endothelium.

Figure 2.54. This figureshows anterior segmentmesenchymal dysgenesis inmembers of the same fam-ily as in Figure 2.53. Onthe left is a smaller area ofmoderate corneal cloud-ing, and on the right is atiny area of minimalcorneal opacity and a cen-tral cataract.

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Figure 2.55. Aniridia in members ofan autosomal dominant (11p13;PAX6) family with variable expressiv-ity is shown in this figure.Neuroectodermal layers of the iris areabnormal. On the left is an eye withcomplete aniridia. On the right is aneye with an atypical (i.e., any locationexcept inferonasal) iris coloboma.

Figure 2.56. This figureshows aniridia in mem-bers of the same family,as in Figure 2.55. On theleft is a typical (infer-onasal location) iriscoloboma. On the rightis an eye with an eccen-tric round pupil with iristhinning and no iris col-larette.

Figure 2.57. Aniridia also occursas a deletion syndrome (del 11p13)known as the WAGR syndrome(Wilms’ tumor, Aniridia, Genito-urinary anomalies, and mentalRetardation). On the left is anearly complete aniridia withminimal iris remnants and a densecataract. On the right is a veryminimal aniridia with an eccentricround pupil with iris thinning andno iris collarette.

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Figure 2.58. Aniridia withcerebellar malformation is anautosomal recessive disorderwhich seems to be associatedwith little variability in expres-sion. On the left is a rathercomplete aniridia with cornealclouding due to glaucoma. Onthe right is another virtuallycomplete aniridia with minimaliris remnants.

Figure 2.59. This figure shows a typical (inferonasal)isolated iris coloboma related to a failure of fusion ofthe optic cup at its most anterior extent. All iris struc-tures are intact except in the inferonasal position.

Figure 2.60. This figuredemonstrates Brush-field’s spots in an infantwith brown irides whichare pathognomonic forDown syndrome. Incontrast, Brushfield’sspots in an infant withblue irides is a non-specific finding ofmany blue irides.

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Figure 2.61. Rieger’s syndromeis an autosomal dominant(4q23-q27) disorder with abnor-mal irides, associated with anabnormal umbilicus and mal-formed teeth. Abnormal irisstroma is present, and glaucomais common. Families mayexhibit variable expressivity. Onthe left is an eye with polycoria,dyscoria, and correctopia pre-sent at birth. On the right is thesame eye several years laterdemonstrating early glaucomadue to progressive obliterationof the chamber angle by adhe-sions of the iris to an anteriorSchwalbe’s line.

Figure 2.62. This figuredemonstrates less severeanomalies of the ante-rior segment. On theleft is an eye with dysco-ria and correctopiawhich was present atbirth resembling an iriscoloboma due to a smalliris adhesion to an ante-rior Schwalbe’s line. Onthe right is an eye with acentral pupil, which isfortuitous since glau-coma is less likely tooccur in eyes with cen-tral pupils.

Figure 2.63. This figure showsmembers of a family with auto-somal dominant pseudo-Rieger’s syndrome which hasbeen associated with an abnor-mal pituitary or an empty sellain some affected family mem-bers. An abnormal iris stromais present and glaucoma iscommon. Families may exhibitvariable expressivity. On theleft is an eye with end stageglaucoma with secondarycorneal clouding. On the rightis an eye with early glaucomawith abnormal adhesions ofthe iris to an anteriorSchwalbe’s line extending 360degrees.

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Figure 2.64. Anterior segments in mem-bers of the same family with pseudo-Rieger’s syndrome are shown as in Figure2.63. On the left is an eye with an eccentricpupil resembling an iris coloboma due to asmall iris adhesion to an anteriorSchwalbe’s line. On the right is an eye witha central pupil which does not have anassociated glaucoma.

Figure 2.65. This infant demonstrates the asymmetri-cal eye size seen with unilateral glaucoma which is anautosomal recessive disorder. Megalocornea (a con-stant enlarged corneal diameter present at birth) mustbe considered in patients with bilateral glaucoma (acorneal enlargment which is progressive up to age 2years). In megalocornea, the intraocular pressure is notincreased. Glaucoma usually presents with excessivetearing, photophobia, and corneal clouding.

Figure 2.66. These pho-tographs are of the optic nervesof the infant shown in Figure2.65. The optic nerves revealasymmetrical cupping reflectingthe increased intraocular pres-sure in the right eye (figure left)and the normal intraocularpressure in the left eye (figureright).

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Figure 2.67. The affected eye of the same infant as inFigure 2.66 demonstrates the corneal enlargement andclouding secondary to corneal edema.

Figure 2.68. This figure is of the unaffected eye of thesame infant. The asymmetry is extremely important indetecting glaucoma in early cases.

Figure 2.69. This infant has neurofibromatosis which is anautosomal dominant (Type 1, 17q11.2; Type 2, 22q11.2-q13)disorder. The asymmetrical eye size demonstrated is due to glaucoma. The thickening of the right upper temporallid is a plexiform neuroma which is pathognomonic forneurofibromatosis.

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Figure 2.70. These pho-tographs are of the opticnerves of the patient inFigure 2.69. The opticnerves reveal asymmetricalcupping, reflecting theincreased intraocular pres-sure in the right eye (on theleft) and the normalintraocular pressure in theleft eye (on the right).

Figure 2.71. The affected eye of the same infant exhibitsminimal corneal enlargement, clouding secondary tocorneal edema, and ectropion uvea with displacement ofthe pupil temporally.

Figure 2.72. This photograph is of the unaffected eye ofthe same infant showing a clear cornea and central pupil.Again, the asymmetry is very important in diagnosing thisglaucoma early.

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Figure 2.73. This infant has Sturge-Weber syndromewith glaucoma. The unilateral facial hemangioma ispathognomonic for Sturge-Weber syndrome, and theinvolvement of the upper lid and conjunctiva is asso-ciated with choroidal hemangiomas and secondaryglaucoma.

Figure 2.74. The photographs of theoptic nerves in the same infant as shownin Figure 2.73 demonstrate the asymmetri-cal cupping reflecting the increasedintraocular pressure in the right eye (onthe left) and the normal intraocular pres-sure in the left eye (on the right).

Figure 2.75. The affected eye of the same patientdemonstrates minimal corneal enlargement, cloudingsecondary to corneal edema, and erythema of the con-junctiva reflecting the presence of a choroidal heman-gioma.

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Figure 2.76. Note the clear white conjunctiva in theunaffected eye of the same infant as in Figures 2.73-2.75.

Figure 2.77. This patientdemonstrates heterochromia ofthe irides which is occasionallyseen in tuberous sclerosis, anautosomal dominant (9q33-34;16p13) disorder. Sector iris pig-mentation is also seen in tuber-ous sclerosis due to abnormalneural crest migration ofmelanocytes into the irisstroma.

Figure 2.78. Oculocutaneous albinism is completealbinism with a lack of pigmentation in the eye and skinand is inherited as an autosomal recessive (tyrosinase defi-ciency; 11q14-q21) disorder. The iris pigment epitheliumcontains no melanin, and the iris has no color. Thus, theiris has a pink color, and the hair is totally white. This formof albinism is distinct from ocular or incomplete albinismwith a partial lack of pigment in the eye and skin which isinherited as an X-linked recessive (Xp22.3) disorder. Theiris pigment epithelium contains less melanin, and the irishas a light color. Thus, the iris is usually blue, and the hairis blond.

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Figure 2.79. The cataract shownon the left is a classical “oil drop”cataract present at birth in aninfant with galactosemia which isan autosomal recessive (galactoki-nase deficiency; 9p13) disorder. Onthe right, the same eye is shownseveral years later with the cataractalmost completely gone after yearsof good dietary control.

Figure 2.80. TheHallermann-Streiff syn-drome is an autosomaldominant syndromewhich is associated withhypotrichosis, mandibu-lar hypoplasia, beakednose, and endocephaly.The figure on the leftdemonstrates an earlycataract in a child withthe Hallermann-Streiffsyndrome. The figure onthe right is of the sameeye a few weeks latershowing progression to adense cataract requiringsurgery.

Figure 2.81. Dense bilateralcataracts represent an “ocularemergency” since immediate refer-ral can result in normal vision(20/20) and stereoacuity. This per-fect result cannot be obtained ifsurgery with optical correction hasnot been completed by the age of 6weeks following birth.

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LENS


Figure 2.82. This is the same patient shown in Figure2.81 following bilateral removal of cataracts and imme-diate fitting with aphakic contact lenses. The infantdeveloped perfect vision and binocular fusion.

Figure 2.83. Cataracts are present in Lowe syndrome(oculocerebrorenal syndrome) which is an X-linkedrecessive disorder (Xq25). In this syndrome, glaucoma isalso frequently present.

Figure 2.84. In the rhizomelic chondrodysplasia punc-tata syndrome, an autosomal recessive disorder,cataracts are frequently present.

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Figure 2.85. The lens is dislocated superotemporallyin the infant with Marfan syndrome which is an auto-somal dominant (15q15-21) disorder.

Figure 2.86. Homocystinuria is an autosomal reces-sive (cystathionine ß-synthetase deficiency; 21q22)disorder which is associated with lenses usually dislo-cated inferiorly. Patients are tall, have osteoporosis,arachnodactyly, and mental retardation.

Figure 2.87. Persistent hyperplastic primary vitreous(PHPV) results from a failure of the embryonic hyaloidartery system to involute. In this eye, the persistence isprimarily anterior with formation of a large cataract.

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RETINA-VITREOUS


Figure 2.88. In this eye, the PHPV is primarily poste-rior with the presence of a large stalk to the opticnerve.

Figure 2.89. Tay-Sachs disease (GM2 gangliosidosisType I) is an autosomal recessive (12q22-25) disorderwhich develops a macular cherry-red spot due to depo-sition of abnormal lipid in the ganglion cell layer of theinner retina surrounding the normal macula.

Figure 2.90. Tuberous sclerosis is an autosomal domi-nant (9q33-34, 16p13) disorder of neural crest origin.This figure shows a retinal astrocytic hamartoma.

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Figure 2.91. Retinoblastoma is an autosomal domi-nant (13q14) disorder which usually occurs withoutmental retardation or other systemic malformations.This is a left eye with a large tumor treated by enu-cleation. The differential diagnosis includes all causesof leukocoria (white pupil) including congenitalcataracts, persistent hyperplastic primary vitreous,cicatricial retinopathy of prematurity, and the entitiesin the differential diagnosis of cicatricial retinopathyof prematurity.

Figure 2.92. The right eye of the same patient asshown in Figure 2.91. These small tumors were treatedwith phototherapy.

Figure 2.93. Retinoblastoma also occurs as a deletionsyndrome (del 13q14) with mental retardation andother systemic malformations. This is a left eye with alarge tumor treated by enucleation.

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Ophthalmology 91


Figure 2.94. This is the right eye of the patient shownin Figure 2.93. This small tumor was treated bycryotherapy. Currently, episcleral plaque radiotherapyand carboplatin chemotherapy are used to treat smallocular tumors, especially when preservation of usefulvision is possible.

Figure 2.95. The location (zone) and extent (clockhours) of the disease must be drawn on a form similarto this.

Figure 2.96. The volume (stage) of abnormal vascularresponse (ridge with or without extravascular fibrovas-cular proliferation) must be indicated for each clockhour. The location of this volume and vascular en-gorgement of the posterior inner retinal vessels deter-mine when surgical intervention must be initiated.

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RETINOPATHY OF PREMATURITYActive Retinopathy of PrematurityThere are three parameters to the classification system known as the International Classification of ActiveRetinopathy of Prematurity (ICROP): location of the disease (zone), extent of the disease (clock hours), andseverity of abnormal vascular response (stage). Screening for active retinopathy of prematurity should begin after4 weeks but before 6 weeks following birth. The critical time for screening is from 32 to 42 weeks postconceptualage. Follow-up examinations vary depending on the clinical findings.

Figure 2.97. This figure depicts active retinopathy ofprematurity: stage 1 (demarcation line).

Figure 2.98. This figure depicts active retinopathy ofprematurity: stage 2 (ridge).

Figure 2.99. This figure depicts active retinopathy ofprematurity: stage 3 (ridge with extraretinal fibrovas-cular proliferation).

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Ophthalmology 93


Figure 2.100. This figure depicts active retinopathy ofprematurity: stage 4a (partial retinal detachment notinvolving the macula). More severe forms of retinaldetachment (not shown) are stage 4b (partial retinaldetachment involving the macula) and stage 5 (totalretinal detachment).

Figure 2.101. In this retinal montage there is zone Iretinopathy of prematurity (stage 3 with plus disease).The same magnification is used in all four of the ROPmontages.

Figure 2.102. A retinal montage which shows zone IIretinopathy of prematurity (stage 4a with plus disease).

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Figure 2.103. In this photograph note the vessels ofthe iris collarette which are engorged, making dilata-tion of the pupil difficult.

Figure 2.104. A persistent and engorged tunica vas-culosa lentis occurs in those infants who are veryimmature and develop severe active retinopathy ofprematurity.

Figure 2.105. This is the grading system for macularectopia. The normal macular position is between 2 and3 disc diameters from the temporal margin of the opticdisc. The numbering system is shown.

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Cicatricial (Spontaneous Regression) Retinopathy of PrematurityThe anatomical macular outcome which correlates with final visual acuity is measured by two parameters: macular ectopia and vessel traction.


Figure 2.106. In the grading system for vessel trac-tion, the normal position of retinal vessels for the firsttwo disc diameters is between the vertical meridianand the 30 sectors temporal to the vertical meridian.The numbering system is shown.

Figure 2.107. This retinal montage shows nasal drag-ging of the macula with macular ectopia of 2 and vesseltraction of 1. Vision is 20/400.

Figure 2.108. In this retinal montage note the tem-poral dragging of the macula with macular ectopia of 4and vessel traction of 2. Vision is 20/400.

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Figure 2.109. An angle closure glaucoma is a com-mon complication of very severe ROP. Conjuctivalerythema, corneal clouding, a nondilatable pupil, anda flat anterior chamber are present.

Figure 2.110. In complete retinal detachment there isa fibrovascular mass behind the lens which providedthe original name for retinopathy of prematurity:“RLF” or retrolental (behind the lens) fibroplasia(fibrovascular mass).

Figure 2.111. Walker-Warburg syndrome is an auto-somal recessive disorder with absence of the normalcascade of retinal differentiation reflected in abnormaldevelopment of all retinal layers. Remnant retina is“retrolental” (behind the lens) and lissencephaly ispresent in the central nervous system.

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Differential Diagnosis for Retinopathy of Prematurity A. Abnormal neuroectodermal migration or differentiation of the retina (from inner to outer layers) can be asso-ciated with abnormal migration or differentiation of the central nervous system as in the following examples.


Figure 2.112. The Dandy-Walker deformity with aposterior encephalocele is another autosomal recessivedisorder which demonstrates the absence of the normalcascade of retinal differentiation in the retinal periphery.

Figure 2.113. Stickler syndrome is an autosomal dominant(12q13) disorder which may be diagnosed in the newbornperiod by recognizing the association between the Robin’sanomalad of cleft palate, small mandible, and backwarddisplacement of the tongue. A progressive arthropathy canbe identified radiographically. The Kniest syndrome maybe an autosomal recessive disorder of the same gene.Abnormal thinning of the peripheral retina which precedesgiant retinal tears is seen in these retinas.

Figure 2.114. Juvenile retinoschisis is an X-linked reces-sive (Xp22) disorder which can present with peripheraland/or foveal involvement. Clinically this is seen as vitreousveils and strands with retinal detachment peripherallyand/or a star-shaped or spoke-like configuration in thefovea. Splitting of the nerve fiber layer in the inner retinais present pathologically.

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Figure 2.115. Incontinentia pigmenti is an X-linkeddominant (Xq27-28) disorder (i.e., limited to females).There is abnormal melanin within the retinal pigmentepithelium and abnormal vascularization of theperipheral retina. Skin, skeletal and central nervoussystems are also affected in this disorder.

Figure 2.116. Norrie syndrome is an X-linked recessive(Xp11.3) disorder which has been classically described as con-genital blindness in all patients with a dysplastic retina histolog-ically. Hearing loss and mental retardation have been associatedprogressive findings. Currently, this classic definition has beenrevised to include other phenotypes of the Norrie disease gene.

Figure 2.117. Exudative vitreoretinopathy can be aphenotype of the Norrie disease gene (Xp11.3) in terminfants with ocular involvement only. Clinically, thereis a progressive peripheral retinal neovascularizationresembling cicatricial Grade II to IV RLF with macu-lar ectopia as shown in this montage. An autosomaldominant (11q13) exudative vitreoretinopathy may beclinically indistinguishable.

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B. Abnormal formation of inner retinal vessels can occur due to genetic abnormality and can be associated withabnormal vascularization of other organ systems as in the following examples.


Figure 2.118. Preterm infants can present with a phe-notype of the Norrie disease gene that involves all ofthe systems vascularized by the dorsal embryonic aorticarches (aorta, thymus, ear, brain, and eye). Clinically,there is an acute peripheral retinal neovascularizationresembling active Stage III ROP as shown in thismontage.

Figure 2.119. The retina of an Asian infant who pre-sented with an anterior encephalocele. Anteriorencephaloceles and this retinal picture are more com-mon in Asians and Africans because of their thinethmoidal structures.

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C. Abnormal formation of inner retinal vessels can occur in response to an intrauterine insult and can be asso-ciated with gross CNS changes as in the following examples.

Figure 2.121. Note the hypoplasticoptic nerve on the left and a normaloptic nerve in the fellow eye on theright. Optic nerve hypoplasia may occurunilaterally or bilaterally, both sporadi-cally, as part of de Mosier syndrome withabsence of corpus callosum, and as partof autosomal recessive optic nervehypoplasia. It may be necessary to evalu-ate the endocrine status of the infant(growth hormone and thyroid hormoneare most commonly decreased).

Figure 2.122. Aicardi’s syndrome presents with char-acteristic chorioretinal “lacunar” lesions. The syn-drome is an X-linked dominant (Xp22) disorder(limited to females). Optic nerve colobomas can occur.The CT scan shows agenesis of the corpus callosumand affected patients have severe mental retardationand infantile massive spasms.

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Figure 2.120. This is the retina of an infant who suf-fered an intrauterine infarction of both middle cerebralarteries. Similar intrauterine stresses can be associatedwith retinal pictures virtually indistinguishable fromROP.

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OPTIC NERVE


Figure 2.124. Morning glory optic nerve anomaly ischaracterized by an enlarged and excavated disc. Notethe symmetry of the fundus excavation with respect tothe disc which suggests an anomalous funnel-shapedenlargement of the distal optic stalk at its junctionwith the primitive optic vesicle as the primary embry-ological defect. Vision is always poor and there may beassociated defects such as the transsphenoidal form ofbasal encephalocele.

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Figure 2.123. Optic nerve coloboma (withoutmicrophthalmia) may occur as an autosomal dominantor sporadically. It is appropriate to examine other fam-ily members, especially any with a history of “glau-coma,” because of variable expressivity.

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Chapter 3The Central Nervous SystemCentral nervous system disorders are among the three major causes of mortality in neonates. All ofthe conditions that affect the infant’s brain do so in part because this system is developing at a rapidrate. The neurologic examination of the newborn must thus be interpreted in the context of thechild’s brain maturation (gestational age) and level of alertness. The examination should be brief soas to avoid hypoxemia and fluctuations in arterial blood pressure. Head circumference is a useful mea-sure of intracranial volume, and longitudinal measurements in particular provide important informa-tion. Observation of movement and symmetry can contribute significantly to the evaluation whileminimizing the effects of handling, especially in the sick neonate. These observations should includeany available assessment of the fetus in the intrauterine environment. Examination of the followingcranial nerves is possible: 1 (olfaction); 2 (optic fundi); 3 (pupils); 3, 4, 6 (extraarticular movements,facial sensation and masticatory power); 7 (facial motility); 5, 7, 9, 10, 12 (sucking and swallowing);11 (sternocleidomastoid function); and 12 (tongue function). Reliable assessment of cranial nerves 2(vision) and 8 (audition) may require testing of auditory or visual evoked responses. Motor examina-tion should include an assessment of tone and posture, motility and strength, and tendon and plan-tar reflexes. Primary neonatal reflexes including Moro’s reflex, palmar grasp, and tonic neck responseshould also be considered. Although a sensory examination is possible, it is usually very limited andcan be noxious. Because of the limitations of the neurologic exam and the complex support requiredby the sick neonate, frequently additional, usually non-invasive, neurodiagnostics will be required.These can include brain imaging (ultrasonography, computed tomography, magnetic resonance imag-ing, brain scan), neurophysiologic techniques (electroencephalogram, nerve conduction, elec-tromyography), and cerebrospinal fluid examination.

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Figure 3.1. “Setting sun” sign in a normal new-born infant. The setting sun sign means that con-jugate upward deviation is decreased. The uppereyelids are retracted and the irides are partly cov-ered by the lower eyelid giving the appearance of asunset. This is rarely observed as an isolated findingin an otherwise normal newborn infant. It may benormal if it is transient, but if it persists, it must beinvestigated. Note associated neonatal acne in thisinfant.

Figure 3.2. Persistent “setting sun” sign in anabnormal newborn infant. The setting sun sign isusually due to a lesion in the region of thequadrigeminal plate of the midbrain and signifiesincreased intracranial pressure. Increased intracra-nial pressure may result from hydrocephalus orsubdural hematoma. It can occur in parenchymalor midbrain lesions, especially kernicterus.

Figure 3.3. This premature infant with wide open eyesand a hyperalert expression continued to have anincreased state of arousal, which is abnormal in thefirst hours of life. CT scan demonstrated a tentorialtear with hemorrhage. Hyperalert states may be theresult of intracranial pathology or may be related tomaternal drug ingestion. Infants with severe intracra-nial irritation may also have an anxious expression andfurrowed brows.

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Figure 3.4. Opisthotonic pos-turing in an infant with con-genital rubella encephalitis.Severe cortical irritation ordamage may produce markedhypertonicity of the spinal mus-cles. The neck is hyperextendedand the spine is arched. Notethe flexed arms, fisted hands,and extended legs. Contracturesmay occur if the child remainsin an opisthotonic posture.

Figure 3.5. Marked hypotonia in a terminfant with Lowe syndrome. Note that theinfant hangs limply when supported in aprone position.

Figure 3.6. Extreme hypotonia in a term infant who appears to slip through thehands of her examiner when held upright under the arms. Most term newbornscan maintain the head in the same plane as the trunk when lifted by the arms orventrally suspended. Extreme head lag is a sign of hypotonia that can be seen ininfants with Down syndrome, prematurity, or brain damage.

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Figure 3.7. Microcephaly in a term infant withcongenital rubella. Microcephaly may be idiopathic oracquired as a result of intracranial pathology. It mayalso result from serious perinatal brain injury in whichcase the FOC (fronto-occipital circumference) may benormal at birth, but then fail to increase as the brainfails to grow after birth. Severe physical and mentalretardation may follow. This infant had an FOC of 30 cm and closed fontanelles.

Figure 3.8. Lateral view of the same infant withmicrocephaly. Microcephaly occurs with intrauterineinfections (rubella, cytomegalovirus, toxoplasmosis),chromosomal abnormalities (cri du chat syndrome,trisomy 13), and toxic drug effects (fetal alcoholsyndrome, fetal aminopterin syndrome).

Figure 3.9. Infant with severe microcephaly ofunknown etiology. One must consider heredity, infec-tion, or irradiation.

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Figure 3.10. Lateral skull radiograph of the sameinfant. Note the severe microcephaly. The normalratio of cranial vault to bony facial structures is 4:1.

Figure 3.11. Macrocephalic head with a fronto-occip-ital circumference of 39 cm in a hypotonic infant witha left cheek skin pit, ear tags, and Goldenhar’s syn-drome. This infant had an increased head circumfer-ence at birth, a fontanelle of normal size, and cranialsutures that are not widened. The face appears rela-tively normal in size.

Figure 3.12. This term infant had macrocephaly, a prominent brow,and distended scalp veins. Transillumination was positive with thelack of underlying brain tissue being consistent with hydranen-cephaly.

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Figure 3.13. Transillumination of thehead of the same infant with hydranen-cephaly shown in Figure 3.12. Thisresults from failure of the development ofthe cerebrum with resulting gross dilata-tion of the ventricles. Note the “jack-o-lantern” appearance of the eyes and anarea of opacity in the transilluminatedhead. Infants with hydranencephaly mayhave isolated nubbins of brain tissue.This condition has an extremely poorprognosis.

Figure 3.14. Transillumination of thelateral view of the head of another infantwith hydranencephaly. Note the largehead size compared with that of the face.Typically infants with hydranencephalypresent with heads that are macro-cephalic. Infants with hydrocephalus willalso have transillumination of the skull,but this would become readily apparentonly if there was massive enlargement ofthe head.

Figure 3.15. Lateral and anterior-posterior views of the head of aninfant with hydranencephaly. Note the large head, some prominenceof scalp veins, the “jack-o-lantern” appearance of the eyes, and thetotal lack of brain tissue.

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Figure 3.16. Clinical appearance of an infantwith hydranencephaly. Note the prominent scalpveins and brow. There is macrocephaly and alarge open anterior fontanelle associated withpoor mineralization of the skull.

Figure 3.17. Transillumination of the head of thesame infant with hydranencephaly. Note the “jack-o-lantern” appearance of the eyes indicating thelack of neural tissue behind the globe.

Figure 3.18. Autopsy view of the skull of the same infantwith hydranencephaly. Note the empty cranial vault withlack of development of the cerebrum.

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Figure 3.19. Lateral view of the head of an infant withmacrocephaly due to a large porencephalic cyst.

Figure 3.20. Another view of the head ofthe same infant showing the marked dis-tortion of the posterior occiput and theengorged scalp veins.

Figure 3.21. Transillumination of theskull of the same infant. The fluid-filledlobulated space-occupying cyst results inmarked distortion of the cranial vault.

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Figure 3.22. Transillumination of the skull of anotherinfant with a smaller porencephalic cyst with the pres-ence of some normal neural tissue.

Figure 3.23. Transillumination of the skullof an infant with a Dandy-Walker malforma-tion. Note the bulging occiput and enlarge-ment of the head, and a large posterior fossacyst.

Figure 3.24. Cranial ultra-sound study of an infant withan increased fronto-occipitalcircumference. Scanning sec-tion reveals large posteriorfossa with hydrocephalus asthe result of a Dandy-Walkermalformation. This ultra-sound marking is referred to asthe “Chinese lantern” sign.

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Figure 3.25. A premature infant (birth weight1250 g) now aged two months with “pseudohydro-cephalus.” These infants have rapidly growingheads as a result of normal catch-up growth.Frontal bossing with prominent temporoparietalbulging suggests a diagnosis of hydrocephaluswhich can easily be excluded by a cranial ultra-sound examination.

Figure 3.27. The same pre-mature infant had someincreased transillumination ofthe cranial vault. This was notpathologic but was the resultof poor mineralization withtransient increased skulllucency.

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Figure 3.26. Superior view of the same infantwith apparent hydrocephalus (pseudohydro-cephalus of prematurity).

Figure 3.28. This term infant showsmassive head enlargement as theresult of congenital hydrocephalus.This results from overproduction orobstruction of the circulation of thecerebrospinal fluid. It can be inher-ited as an X-linked recessive trait in amale infant as the result of aqueduc-tal stenosis. Other underlying braindefects may be present.

Figure 3.29. Congenital hydro-cephalus in a term male infant withrespiratory failure. Note the commonassociation of the adducted thumbs,seen in the X-linked variant, and theprominent scalp veins. The birthweight of this infant was 3800 g, thelength 53 cm, and the fronto-occipi-tal circumference 52.5 cm.

Figure 3.30. Transillumination ofthe skull of the same infant with con-genital hydrocephalus. Note the veryprominent scalp veins which proba-bly reflect the marked increase inintracranial pressure.

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Figure 3.31. Iniencephalyis the most severe formof a closed neural tubedefect. It results inenlargement of the fora-men magnum and fusionof the posterior occiputwith the cervicothoracicspine. It is incompatiblewith survival.

Figure 3.32. Radiograph of the same infant with inien-cephaly. Note absence of the laminal and spinal processesof the cervical, dorsal, and sometimes lumbar vertebrae.The vertebrae are reduced in number and are irregularlyfused.

Figure 3.33. Another infant with iniencephaly showing the lack of a neckdue to the fusion of the posterior occiput with the cervicothoracic spine.

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Figure 3.34. Radiograph of the same infant withiniencephaly. Note the schistasis of the cervicalvertebrae.

Figure 3.35. Craniorachischisis represents themost severe form of an open neural tube defect.Note that the defect in this infant is open fromthe anterior to the posterior neural pore.

Figure 3.36. Anencephaly is adevelopmental defect in thebrain with an open craniumresulting from failure of the ante-rior neural tube to close. It is amajor open neural tube defect inwhich there is absence of skullbones, cranial vault, and incom-plete development of the brain.Malformation of other organsmay occur such as adrenalhypoplasia and genitourinaryabnormalities. Anencephaly inthis term infant left an exposedfibrotic degenerating ill-definedmass of neural tissue. Most ofthese infants are stillborn and theremainder die in the immediateneonatal period.

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Figure 3.37. Another infant with anen-cephaly. Anencephaly is more common infemales.

Figure 3.38. The lateral view of the same infant withanencephaly.

Figure 3.39. Encephalocelesmay occur at any midlinepoint in the skull and resultfrom failure of the neuroecto-dermal axis to develop nor-mally. This results in bonydefects of the skull with pro-trusion of the meninges whichmay contain neural tissue.They are most common in theoccipital area. The prognosis isbetter if the rest of the skull isnormal and there is no hernia-tion of neural tissue.

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Figure 3.40. Encephaloceles occur at anymidline point in the skull. The exception isthe occurrence of an asymmetric enceph-alocele that occurs with a severe amnioticband disruption sequence. This infant withdisruption shows the large asymmetricencephalocele and the involvement of themouth, nose, eyes, and head.

Figure 3.41. Abnormal facial and nasal appearance ofan infant with an anterior encephalocele. This infanthas a severe midline nasal schistasis. The external air-ways were obstructed. The CT scan demonstrated acommunicating encephalocele. At surgery, an ethmoidencephalocele was removed.

Figure 3.42. The soft tissuemass in this infant proved tobe an anterior encephalo-cele.

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Figure 3.43. Retraction of eyelids of the same infantreveals that the soft tissue mass occupies the nasal aspect ofthe orbit with distortion of the globe.

Figure 3.44. A term infant with ananterior encephalocele. In the Westernhemisphere and Europe, the majority ofencephaloceles are posterior, whereas inthe Far East (India, Sri Lanka, Africa,etc.), the majority of encephaloceles areanterior.

Figure 3.45. In this infantwith an anterior encephalo-cele, the fluid draining fromthe mass was positive forglucose confirming the ori-gin of the fluid as CSF(cerebrospinal fluid).

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Figure 3.46. This anterior encephalocele pre-sented as a soft tissue midline mass which causednasal obstruction and respiratory distress.

Figure 3.47. The abnormal brow appearancein this term infant is the result of a frontalencephalocele.

Figure 3.48. Lateral view of the same infant with a frontalencephalocele.

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Figure 3.49. A posterior encephalocele in aninfant may be difficult to distinguish from acervical meningocele. It is both a posteriorencephalocele and cervical myelomeningocelewhen there is involvement of both the bonyskull and spine. Cervical myelomeningocelesare usually not associated with other neuro-logic abnormalities.

Figure 3.50. Inferior view with transillumination ofthe posterior structure in an occipital encephalocele.In a cranial encephalocele there is a herniation ofmeninges through a skull defect.

Figure 3.51. Infant with a posterior small occipital encephalo-cele. Occipital encephalocele present as a protruding soft tissuemass from the base of the skull.

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Figure 3.52. Posteriorencephaloceles may be dis-tinguished from associatedcervical spine abnormalitiesby MRI.

Figure 3.53. Transillumination of theposterior encephalocele in the sameinfant.

Figure 3.54. In this massive occipital encephalocele notethe lack of neurologic tissue.

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Figure 3.55. Rupture of alarge posterior encephalo-cele with protrusion ofneural components. Thisresults in a poor prognosis.

Figure 3.56. Infant with both aposterior encephalocele and alumbar myelomeningocele. Thelumbar area is the most commonsite for myelomeningoceles.

Figure 3.57. A cervicalmeningocele may be difficult todifferentiate from an occipitalencephalocele. Further study inthis infant showed that this was acervical meningocele.

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Figure 3.58. A midline hair tuft in the lum-bosacral area. This infant had a tethered cord onMRI study. Hair tufts, skin tags, sinuses, and abnor-mal pigmentation that occur in the midline alongthe length of the spinal column should always alertone to the possibility of an associated underlyingneurologic abnormality. With a tethered cord theneural tissue is firmly attached at its caudal end,being bound by a stout connective tissue band tothe interior of the bony canal. With growth, thespinal canal normally grows more rapidly than thespinal cord resulting in traction on the cord. Thismay gradually pull the lower end of the brainstemdown into the foramen magnum like a cork into abottle. This is the Arnold-Chiari malformation.

Figure 3.59. A midline tuft of hair with a pig-mented nevus in the lumbosacral area. Thisshould alert one to the possibility of an associatedunderlying neurologic abnormality.

Figure 3.60. Midline pilonidal dimples or sinuses arecommon deformities. They represent the point ofattachment of the distal end of the neural tube to thecoccyx. If there is a deep dimple, an MRI should beperformed to exclude a neural tube defect. The MRIwas normal in this infant.

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Figure 3.61. This infant had a midline small skin tag with depig-mentation of the skin in the lumbosacral region. The MRI revealeda tethered cord.

Figure 3.62. This infant has alumbar meningocele which is anexample of a closed neural tubedefect. The neural tube closes by infolding from the coccyx tothe nasion and defects of fusioncan occur anywhere along thisaxis. Meningoceles occur whenthe membranes surrounding the spinal cord bulge outwardthrough a dorsal defect in thebony spinal canal. The resultingmass may be tense or fluctuantand is covered by intact skin.

Figure 3.63. A lumbosacralmeningocele is present in thisinfant. The lumbosacral area isthe most common location forboth meningoceles and myelo-meningoceles. Infants with men-ingoceles and myelomeningocelesmay have an Arnold-Chiari mal-formation and a high percentagedevelop hydrocephalus. Thequality of life is influenced by thesite of the neurologic lesion.

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Figure 3.64. This infant has a thoracic myelo-meningocele which presents as an open midlinedefect. Although myelomeningoceles occur mostcommonly at the lumbosacral level, they may affectthe neural tube at any level. The posterior elementscovering the spinal canal fail to form, but in thistype of defect the cystic mass that bulges out poste-riorly contains neural tissue and the surface of themeninges is exposed to the exterior with no skincovering. Large lesions may incorporate a large seg-ment of the spinal cord itself.

Figure 3.65. Thoracolumbosacral myelo-meningocele with exposure of the centralspinal canal. Note the leaking of cerebrospinalfluid. The meningeal sac often ruptures beforebirth or during delivery, thus exposing theneural tissue to direct injury or the risk ofinfection. Loss of neurologic function distal tothe lesion is the rule. There may be absence ofcontrol of the urinary and anal sphincters,bladder paralysis, and variable degrees of sen-sory and motor deficit to the lower limbs.

Figure 3.66. A close-up view of the thoracolumbosacral myelomeningocelewith the exposed central canal visible.

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Figure 3.67. In this infant with a lum-bosacral myelomeningocele note that withthis low level of involvement, there was noanal wink, the hips were flexed, and therewere bilateral clubfeet. Clubfeet and rocker-bottom feet are commonly associated withmyelomeningoceles.

Figure 3.68. In this infant with a lumbosacralmeningocele note that the sac is closed and that thereis an overlying hair tuft. Trivial abnormalities such asnevi, sinuses, and hair tufts may indicate an underlyingcentral nervous system abnormality.

Figure 3.69. An infant with rachischisis or myelomeningocele. Incontrast to encephaloceles, myelomeningoceles represent failure ofclosure of the posterior neuropore. There is usually lack of fusion ofthe vertebral arches with broadened vertebrae and dorsal protru-sion of the neural tissue in an enclosed sac with a thin membranethat can easily rupture. Secondary hydrocephalus is a commonassociation.

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Figure 3.70. Thoracolumbar myelo-meningocele in another infant.Diastematomyelia (congenital medialcleft of the spinal cord) is usually associ-ated with spina bifida occulta. Theremay be tufts of hair (hypertrichosis) inthe area of the mid to lower thoracicspinal column. The condition is diag-nosed by MRI.

Figure 3.71. In infants with a myelomeningocele theremay be associated abnormal posture. Note the severelydeformed lower limbs from lack of movement in uteroresulting in genu recurvatum, and the rocker-bottom feet.This infant also shows procidentia (prolapse of the uteruswith protrusion of the cervix). Procidentia is a very uncom-mon finding in the neonate but, if present, is invariablyassociated with a neural tube defect.

Figure 3.72. Lumbar myelo-meningocele and anterior abdomi-nal wall hernia.

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Figure 3.73. Posterior view of the sameinfant as in Figure 3.72 showing the lumbarmyelomeningocele.

Figure 3.74. A 31-week gestation premature infantwith a cloacal exstrophy sequence (exstrophy of thecloaca, imperforate anus, ambiguous genitalia, andmyelocystocele). There is a myelocystocele (hydro-myelia; syringomyelocele) extending from T7 to thesacrum, and the infant also had an associated Arnold-Chiari malformation. Myelocystoceles are due to dilatation of the centralcanal (hydromyelia) and to protrusion over the surfaceof the posterior aspect of the much expanded spinalcord which may be covered by meninges and skin. Insuch cases, the cavity is cranially and caudally directlyconnected with the central canal. The spinal nerves donot traverse the cavity (as they do in the commonmyelomeningocele) but course around it.

Figure 3.75. A close-upview of the exstrophy ofthe cloaca. Note theureteral openings.

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Figure 3.76. Another infantwith the cloacal exstrophysequence. Associated anomaliesinclude imperforate anus,ambiguous genitalia, cloacalexstrophy, and lumbosacralmyelocele.

Figure 3.77. Transillumination of the lumbosacralmass of the same infant shows the myelocystocele.

Figure 3.78. Radiograph of another infant with the cloacal exstrophysequence. Note the large myelocystocele, omphalocele, and cloacalexstrophy.

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Figure 3.79. This lipomeningocele isa simple meningocele with infiltra-tion of fibrous and fatty tissue contin-uous with a subcutaneous lipoma. Thelipoma may even extend into thespinal canal. Because of the presenceof the lipoma, as seen in this infant,the meningocele is not midline.There was an underlying tetheredcord as demonstrated by MRI.

Figure 3.80. Note the associated pro-trusion of a skin tag in another variantof a lipomeningocele. In infants withlipomeningoceles, skin tags may bepresent, there may be some skin dis-coloration due to the presence of thelipoma, and the lesions are usually notmidline because of the presence of thelipoma. Lipomeningoceles are rela-tively rare defects.

Figure 3.81. In this infant with alipomeningocele with a tethered cord, notethe associated skin discoloration with a smallskin tag.

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Figure 3.82. A lipomeningocele with an associatedsinus tract is present in this infant.

Figure 3.83. Infant with a large dermal sinus tract associated withcord tethering and spinal dysraphism. On MRI there was a tetheredcord and spina bifida both above and below the lesion.

Figure 3.84. Small “finger-like”dermal tag extending from the mid-line of the back at the T4 level.Underlying the skin tag there wasbony dysraphism with a small bandof soft tissue extending toward thespinal cord. There were multiple ribanomalies with fusion of severalupper thoracic ribs. MRI showed aspina bifida of the upper thoracicspine and tethering of the spinalcord distally.

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Figure 3.85. On the leftis a photograph of a largemidline skin defect repre-senting a large dermalsinus. Right is a close-upof the dermal sinus.

Figure 3.86. Left, photo-graph of another variantof a dermal sinus. Right,close-up of the same sinus.Dermal sinuses occur mid-line anywhere along thespinal cord and warrantexamination of the cen-tral nervous system.

Figure 3.87. Midline skindefect with an inferiordeep pilonidal dimple.MRI of the spinal columnrevealed a tethered spinalcord. A pilonidal sinusmay connect with theunderlying distal end ofthe spinal canal. Thisshould be suspected whenthe bottom of a midlinepit over the sacrum can-not be seen, if there is anyfluid emerging from thedepths of such a pit, orwhen the pit containshairs.

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Figure 3.88. Midline skin defect at the inferior aspectof the hairline of an infant with an associated dermalsinus tract. This infant had an associated lateral nasalcleft.

Figure 3.89. Anoxic encephalomalacia and hemor-rhages in an autopsy specimen of a brain. Note themultiple areas of hemorrhage in the brain of this terminfant.

Figure 3.90. Head ultrasound examination of aninfant with schizencephaly. This is the most severe ofthe cortical malformations as the result of abnormalmigration occurring no later than the 2nd month ofgestation. There is complete agenesis of a portion ofthe cerebral wall leaving bilateral schisms or clefts.

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Figure 3.91. Clefts or “lips” demonstrated inthe right hemisphere in the MRI of the headof an infant with schizencephaly. The lips ofthe clefts may become widely separated andmassive dilation of the ventricles may occur.This can result in a striking degree of trans-illumination of the skull with an incorrectdiagnosis of hydranencephaly. Infants whosurvive have severe seizures with markedspasticity (sometimes preceded by hypoto-nia), and severe retardation.

Figure 3.92. Angiogram of an infant who presentedwith severe congestive heart failure. Note the largearteriovenous malformation of the great vein of Galen.These malformations have been diagnosed both pre-and postnatally with the use of ultrasonography, CTscan, or MRI.

Figure 3.93. Autopsy specimen of the brain of a prematureinfant who suffered from a large subarachnoid hemorrhage. Notethe bleeding especially around the temporal lobes.

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Figure 3.94. Autopsy specimens of thebrains of two infants showing massive hem-orrhage. Top, hemorrhages at the base of thebrain. Bottom, massive bilateral intraven-tricular hemorrhages.

Figure 3.95. Autopsy coronal views of the brain with bilateral intraventricular hemorrhage. Note thelack of convolutions and convexities in this immaturebrain. The ventricles are enlarged as a result of massivebleeding.

Figure 3.96. Autopsy specimen of a brain withbilateral intraventricular hemorrhage. Note the mark-ed extension of the hemorrhage into the right cere-brum. This constitutes a grade IV intraventricularhemorrhage.

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Figure 3.97. Autopsy specimens of casts of blood from a largeintraventricular hemorrhage. Top, cast of the lateral ventricle;bottom, cast of the fourth ventricle.

Figure 3.98. Histology of a sec-tion from the brain of a prema-ture infant with a subependymalhemorrhage. Note, on the right,the lack of congestion/blood inthe adjacent ventricle. Thisindicates that the subepen-dymal hemorrhage has not bro-ken through into the ventricle.

Figure 3.99. In contrast, thishistology represents a sectionfrom the brain of a prematureinfant who has had an intraven-tricular hemorrhage. Note thatthe congestion/blood has bro-ken through into the ventriclewhich is filled with blood.

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Figure 3.100. A coronal ultrasound scan through thebrain of a premature infant with a grade I PVH-IVH.There is a large left-sided subependymal hemorrhage(large arrow) with a less echogenic area on the right.Note the midline septum pellucidum (small superiorarrow). (Figures 3.100–3.103 are from Langston C,Wolfson R. JAMA 1983; 250:3213 and are reprintedwith the permission of the American MedicalAssociation. Copyright 1983, American MedicalAssociation.)

Figure 3.101. A coronal ultrasound scan showsechogenic blood in the mildly dilated lateral ventricles(arrows) and in the 3rd ventricle (arrowhead).

Figure 3.102. This coronal ultrasound scan showsextension of blood into the parenchyma of the brain(arrow heads). Note the large dilated right lateral ven-tricle (arrows).

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Classification for periventricular-intraventricular hemorrhage(PVH-IVH):

Grade I. Subependymal hemorrhage.Grade II. Hemorrhage into the ventricles.Grade III. Hemorrhage into the ventricles with dilatation of the ventricles. Grade IV. Hemorrhage into the ventricles with dilatation of the ventricles and extension into the parenchyma.


Figure 3.103. This coronal ultrasound scan showsconversion of intraparenchymal bleeding to a largearea of porencephaly (arrow). The echogenic shunttube is placed in the dilated right lateral ventricle(arrowhead).

Figure 3.104. A CT scan of an infant with a grade IIPVH-IVH. There is blood within the lateral ventricleswithout ventricular dilatation.

Figure 3.105. A CT scan of an infant with a grade IIIPVH-IVH. There is blood within the dilated lateralventricles.

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Figure 3.106. A CT scan of an infant with a grade IV PVH-IVH.Note the blood within the lateral ventricles and extension into thecerebral parenchyma.

Figure 3.107. This term infant presented with markedincrease in head size (fronto-occipital circumference41 cm). A lateral skull radiograph showed the enlargedhead and an increased density over the parietal area.

Figure 3.108. A CT scan of the same infant showed a large braintumor. The infant died at the age of 2 days and autopsy diagnosiswas glioblastoma multiforme. There was hydrocephalus and amassive brain tumor with diffuse encephalomalacia and markeddistortion of the brain.

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Figure 3.109. This term infant, born by spontaneous vaginaldelivery, developed seizures on the first day of life and wastreated with phenobarbital. The EEG showed decreasedactivity of the left temporal region. The fronto-occipitalcircumference increased rapidly in the first few days of lifefrom 38.5 cm at birth to 41 cm at 10 days of age. Note theenlargement of the head and the illusion of low-set rotated ears.

Figure 3.110. A CT scan of the same infant revealed a largechoroid plexus tumor. These tumors are usually associatedwith hydrocephalus. Hydrocephalus may occur as a result ofan increased production of CSF or may be due to obstructionof the flow of CSF. A rapid increase in the size of the tumoror hydrocephalus may be associated with hemorrhage andnecrosis in the tumor as occurred in this infant.

Figure 3.111. MRI of the same infant on the 9th day of liferevealed a large mass on the right side extending to themidline with ventricular dilatation and hydrocephalus. Theinfant died at 31 days of age.

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The presentation of congenital brain tumors includes:1) Stillborn with megalencephaly, with tumor replacing nearly all of the brain.2) Liveborn with dystocia secondary to hydrocephalus.3) Normal at birth but with abrupt cranial enlargement within a few days.

Figure 3.112. There was marked lack of fetalmovement, vaginal delivery was difficult, andthere was a fracture of the left humerus and of theright femur present at birth in this floppy terminfant. Note the “frog leg” position with markedhypotonia, areflexia, and paradoxical respiration.The diagnosis was amyotonia congenita.

Figure 3.113. Posterior view of the same infant.Note again the hypotonia and the “frog leg” posi-tion with swelling of the left arm and the rightleg. This swelling is the result of fractures at thetime of birth.

Figure 3.114. Radiograph of the same infant. Notethe very thin bones, lack of muscle tissue, and frac-ture of the left humerus and right femur.

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Figure 3.115. Radiographof the right arm of the sameinfant shown in Figure3.112-3.114. Note the markedthinning of the bones andlack of muscle mass. Thispoor development of boneand muscle results from lackof fetal movement.

Figure 3.116. Right hand of the same infantwith amyotonia congenita. Note the lack of fingercreases and the abnormal appearance of the handdue to lack of intrauterine fetal movement. Fingercreases normally develop at 11 to 12 weeks gesta-tional age.

Figure 3.117. In this male infant with myotonic dystrophy, notethe marked hypotonia, cryptorchidism, and clubfoot.

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Figure 3.118. The face of the same infant as shown in Figure3.117 shows the typical lack of expression and the bilateral ptosisseen in myotonic dystrophy. This should be differentiated fromneonatal myasthenia gravis.

Figure 3.119. Cryptorchidism and clubfootin the same infant with myotonic dystrophy.

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About 10 to 15% of infants of myasthenic mothers are affected andsigns present in the baby at or shortly after birth. The clinical pic-ture of neonatal myasthenia gravis is dominated by general hypo-tonia, there being symmetrical involvement of the face, trunk andlimbs. In severe cases there is lack of facial expression and difficultyin sucking and swallowing. Prognosis is good, with improvementwithin a week; the infant may be symptomatic as long as 6 weeks.

Figure 3.120. Radiograph of thorax of a hypotonic infant with thefetal akinesia syndrome. Note the thin, gracile, downslanting ribs,long thin clavicles, and splayed chest. The poor inspiration is dueto poor muscle effort because of the hypotonia.

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144

Acne, neonatal, 104Acrocephalosyndactyly. See Apert’s syndromeAcrocephalopolysyndactyly. See Carpenter’s syndromeAdactylia, 35Adrenal hypoplasia, 115Aglossia, 35Agnathia, 52Aicardi’s syndrome, 101Alae nasi, cleft, 18Albinism, 86Alobar holoprosencephaly, 19Alveolar ridges, 20-21, 31-32Amblyopia, 59-60, 62, 70, 72Amniotic band disruption sequence, 117Amyotonia, congenital, 141-42Anencephaly, 115-16Aniridia, 79-80Ankyloblepharon filiforme adnatum, 70Ankyloglossia, 30Anophthalmia, bilateral, 76Anoxic encephalomalacia, 133Anus, imperforate, 5, 128-29Aorta, coarctation of, 18Apert’s syndrome, 7, 10, 12-13Aqueductal stenosis, 113Arachnodactyly, 89Areflexia, 141Arhinencephaly, 19Arnold-Chiari malformation, 123-24, 128Arthropathy, 98Astigmatism, 72Asynclitism of skull, 8Atresia of external auditory canal, 51

Beckwith-Wiedemann syndrome, 36, 48Blepharophimosis, 70, 76Blepharoptosis, bilateral, 76Bohn’s nodules, 33Bossing, of head, 7, 112Brachycephaly, 7, 15Brachmann-de Lange syndrome, 7. See also Cornelia de LangesyndromeBrain

anencephaly, 115-16arhinencephaly, 19brachycephaly, 7, 15cebocephaly, 22clefts in, 133-34damage, 105dolichocephaly, 6endocephaly, 87ethmocephaly, 22hemorrhage, 134-39holoprosencephaly, 16, 19-22hydraencephaly, 107-9hypsicephaly, 6iniencephaly, 114-15lissencephaly, 97macrocephaly, 107-10

megaloencephaly, 140microcephaly, 19, 21, 106-7plagiocephaly, 8scaphocephaly, 6-7schizencephaly, 133-34trigonocephaly, 8tumors, 139-44turribrachycephaly, 11-13See also Head, Hydrocephalus

Branchial arch, 50, 52, 54-55, 71Branchial remnants, 55-56Branchial sinus, 56Breech presentation, 1Brushfield’s spots, 80Buccal fat pads, 22Buphthalmos, 74

Candida albicans, 64Candidiasis, 35, 64Capillary hemangiomas of eyelids, 70Cardiac limb syndrome. See Holt-Oram syndromeCarpenter’s syndrome, 7, 13-14Cartilage, of ears, 44Cataracts, 18, 60, 66, 78-79, 87-89, 91Caudal fistulous tract, 55Cavernous sinus thrombosis, 70Cebocephaly, 22Cephalohematoma, 4Cerebrospinal fluid examination, 103Cervical cleft, congenital, 54-55Cervical cysts, 57CHARGE syndrome, 76Chest, splayed, 144“Chinese lantern” sign, 111Chlamydial conjunctivitis, 63Chondroectodermal dysplasia. See Ellis-van Creveld syndromeChorioretinal scar, 66-67Choristoma, complex, 72Choroid, coloboma of, 77Choroid plexus tumor, 140Cicatricial retinopathy of prematurity, 91, 95-97Cleft lip, 40-42Cleft palate, 19, 35, 40-44, 53, 98Cleidocranial dysostosis, 7Cloacal exstrophy sequence, 128-29Clubfeet, 126, 142-43Coarctation of aorta, 18Coccyx, 123-24Coloboma

choroid, 77eyelid, 71-72iris, 79-80optic nerve, 67, 77, 101

Colobomatous microphthalmia, 77Computed tomography. See CT scanCongenital amyotonia, 141-42Congenital cataracts, 91Congenital cervical cleft, 54-55Congenital ectropion/entropion, 74

Index

145

Congenital epulis, 34Congenital glaucoma, 59-50Congenital heart disease, 23, 52Congenital hydrocephalus, 113Congenital hypothyroidism, 37Congenital medial cleft of spinal cord, 127Congenital rubella, 105-6Congestive heart failure, 134Conjunctiva, 85-86

prolapse of, 74Conjunctivitis, 63Cornea, 18, 59, 71-72, 77

clouding of, 78, 80-83, 85, 97edema, 61, 83-85epithelium, 64ulcer, 68

Cornelia de Lange syndrome, 73. See also Brachmann-de LangesyndromeCoronal sutures, 7-8, 10-11, 13, 15Corpus callosum, 101Correctopia, 81Cranio-carpotarsal dystrophy. See Freeman-Sheldon syndromeCraniofacial dysostosis. See Crouzon’s diseaseCraniorachischisis, 115Craniosynostosis, 6-7, 10-11Craniotabes, 5Crede prophylaxis, 63Cri du chat syndrome, 106Crouzon’s disease, 15Cryptorchidism, 142-43Cryptothalmos, 73CT scan, 103-4, 117, 134, 138-40Cutaneous tags. See Skin tagsCyclopia, 21Cysts

cervical, 57dermoid, 75eruption, 26, 29on eyelid, 75inclusion, 33lacrimal, 70on palate, 32porencephalic, 110-11posterior fossa, 111 retention, 34thyroglossal, 39, 54-55, 57

Cystic eye, 77Cystic hygroma, 1, 56-57Cystic swelling of tongue, 38-39Cytomegalovirus, 65-68, 106

Dacryocystocele, 69Dandy-Walker syndrome, 98, 111Deafness, 25. See also Hearing lossDe Mosier’s syndrome, 101Dendrites, 68Dermal sinuses (dimples), 123, 126, 131-33Dermoid cysts, 75Descemet’s layer, 61Diastema, 34

Diastematomyelia, 127Dilating drops, 60Dimples, 123, 126, 131-33Dolichocephaly, 6Down syndrome, 7, 80, 105Dwarfism, thanatophoric, 9-10Dyscoria, 81Dysplasia, frontonasal, 16Dystocia, 140

Earlobes, 36, 47-49Ears, 24-25, 44-52

Preauricular pits, 48Preauricular skin tags, 25, 48-50, 54

Echogenic shunt tube, 138Ectodermal dysplasia, 28Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome, 41Ectropion, congenital, 74Ectropion uvea, 84Edema

corneal, 61, 68, 83-85retinal, 69

EEC syndrome, 41Electroencephalogram, 103, 140Electromyography, 103Ellis-van Creveld syndrome, 31EMG syndrome. See Beckwith-Wiedemann syndromeEncephalocele, 5, 16, 19, 69, 98, 100, 102, 116-22Encephalomalacia, 139Endocephaly, 87Endophthalmitis, 64Entropion, congenital, 74Epiblepharon, 74Epibulbar dermoids, 71Epicanthic folds, 16Epicanthus inversus, 76Epithelial pearls, 32-33Epstein’s pearls, 32-33Epulis, congenital, 34Eruption cysts, 26, 29Erythema of conjunctiva, 85Erythromycin, 63Escherichia coli conjunctivitis, 63Ethmocephaly, 22Exomphalos, 36Exophthalmos, 15, 75Eyelid, 61, 70-76, 85, 104

retraction of, 75, 118Eyes, 59-102

antimongoloid slanting of, 15, 25, 54, 71cyclopia, 21examination of, 59-60slanting of, 46See also Conjunctiva, Cornea, Iris, Lens, Optic nerve, Pupil,

Retina

Face“dished in,” 15facial clefting, 24flat, 10, 12-13, 16hypoplasia of facial bones, 15, 21

146

Facioauricularvertebral spectrum. See Goldenhar’s syndromeFeet, 126-27. See also Clubfeet, ToesFetal akinesia syndrome, 47, 144Fetal fissure, 67Fetal alcohol syndrome, 23, 106Fetal aminopterin syndrome, 106Fingers, 14, 142. See also Arachndactyly, Ectrodactyly,Polysyndactyly, Syndactyly, ThumbFistulae, 50Fontanelle, 1-3, 9, 18Foot. See Feet.Foramen magnum, enlarged, 114Foramina

narrowed optic, 15parietal, 3-4

Forceps, trauma caused by, 61-62Forebrain, maldevelopment of, 20Forehead, receding, 19Foreskin, 33François dyscephaly. See Hallerman-Streiff syndromeFraser’s syndrome, 73Freeman-Sheldon syndrome, 24Frenulum, lingual, 30-31“Frog leg” position, 141

Galactokinase deficiency, 87Gangliosidosis, 90Genitalia, ambiguous, 128-29Genitourinary anomalies, 79, 115Genu recurvatum, 127Gigantism, 36Glaucoma, 59-60, 78, 80-85, 88, 97, 101Glioblastoma multiforme, 139Glycogen storage disease, 37Goldenhar’s syndrome, 24-25, 50-51, 54, 71-72, 107Gonococcal infections, 63-64Growth hormone deficiency, 29Gums, 31-32

Hair tufts, 123, 126-27, 132Hallerman-Streiff syndrome, 24, 87Hamartoma, 31, 34

retinal astrocytic, 90Hand. See Fingers, ThumbHead, 1-13, 15, 106-122. See also BrainHearing loss, 99. See also DeafnessHeart disease, congenital, 23, 52Hemangioma, 37, 39, 85Hematoma, subdural, 104Hemifacial macrosomia. See Goldenhar’s syndromeHemorrhage

brain, 134-39retinal, 62subconjunctival, 62

Herniaabdominal wall, 127umbilical, 36

Herpes simplex, 65, 68-69Herpetic lesions, 34Heterochromia of irides, 86

Holoprosencephaly, 16, 19-22Holt-Oram syndrome, 18Homocystinuria, 89Hydraencephaly, 107-9Hydrocephalus, 5, 46, 52, 104, 113, 124, 126, 139-40Hydromyelia, 128Hygroma, cystic, 56-57Hyperalert state, 104Hypertelorism, 15-16, 19, 73Hyperthyroidism, 75Hypertrichosis see Hair tuftsHypoglossia, 35Hypoplasia

of facial bones, 15of optic nerve, 68, 101of the pinna, 51

Hypotelorism, 20-21Hypothyroidism, congenital, 37Hypotonia, 46, 105, 107, 134, 141-44Hypotrichosis, 87Hypsicephaly, 6

Inclusion cysts, 33Incontinentia pigmenti, 99Iniencephaly, 114-15Intracranial pressure, 104Intraventricular hemorrhage, 135-39Intubation, 35, 43Iris, 79-82, 86, 104

Jaw. See Agnathia, Mandible, Maxilla, Micrognathia, Treacher-Collins syndrome

Kleeblattschädel, 9Kniest syndrome, 98

Lacrimal abnormalities, 69-71Lacrimal drainage, 61Lambdoidal suture, 8Lens, abnormal, 87-89Leukocoria, 91Lingual ankyloglossia, “tongue tie,” 30Lipodermoids, 71Lipoma, subcutaneous, 130Lipomeningocele, 130-31Lips, 16, 19, 23, 31-32, 34

cleft lip, 20-21, 29, 40-42Lissencephaly, 97Lop ears, 46Lowe syndrome, 88, 105Lückenschädel, 5Lungs, hypoplastic, 52Lymphangioma, 37, 56

Macrocephaly, 107-10Macroglossia, 36-37Macrostomia, 24-25, 54Macular ectopia, 95-96Macular retinal edema, 69Magnetic resonance imaging (MRI), 103, 121, 123-24, 127,130-32, 134, 140

Malar hypoplasia, 54Mandible

hypoplasia of, 24, 87prognathic, 15

Mandibular arch, 24Mandibulofacial dysostosis. See Treacher-Collins syndromeMarfan syndrome, 89Masseter muscle, 22Maxilla, hypoplasia of, 15, 24Median cleft syndrome, 8, 16, 19, 20-21, 29Megalencephaly, 140Megalocornea, 82Meningitis, 70Meningocele, 5, 116, 120, 122, 124, 130-31. See alsoMyelomeningoceleMental retardation, 79, 89, 91, 99Mesenchymal dysgenesis, 78Metopic suture, 4, 8, 15Microcephaly, 19, 21, 106-7Micrognathia, 16, 24, 52-54Microphthalmia, 65, 74, 76-77Microstomia, 24, 44, 52Microtia, 51Midfacial cleft, 39Midline lesion, 17Milia, 32Möbius’ syndrome, 37Morning glory optic nerve anomaly, 102Moro’s reflex, 103Mosaic trisomy 8, 24, 44Motor examination, 103Mouth, 16, 19, 23, 26-44. See also Lips, Palate, TongueMozart ear, 47MRI see magnetic resonance imagingMucobuccal sulcus, 31Mucoceles, 34Mucosa, 23Myasthenia gravis, 143Myelocele, 129Myelocystocele, 128-29Myelomeningocele, 120, 122, 124-28Myopic astigmatism, 61Myotonic dystrophy, 142-43

Nager’s acrofacial dysostosis syndrome, 51Nanophthalmia, 76Nasal deformities, 9, 15-22, 41, 133Nasal obstruction, 119Nasal schistasis, 19, 117Natal teeth, 26Neck, 54-57

absence of, 114examination of, 1

Necrotizing chorioretinitis, 69Neisseria gonorrhoeae, 63Neonatal teeth, 26-31Neural tube defects, 114-16, 120, 122-30Neurofibromatosis, 83Neurologic examination, 103

Neuroma, plexiform, 83Norrie syndrome, 99-100Nose, 16-23Nostril, absent or single, 22

Occiput, flat, 7Oculoauriculovertebral dysplasia, 71Oculocerebrorenal syndrome. See Lowe syndromeOculocutaneous albinism, 86Oligohydramnios, 44Omphalocele, 36, 129Ophthalmoscopy, 59Opisthotonic posturing, 105Optic nerve, 62, 67-68, 82, 84-85, 101-2

coloboma of, 77Optic foramina, narrowed, 15Orbits, fused, 21Orofaciodigital syndrome, 30-31Osteogenesis imperfecta, 5Osteoporosis, 89

Palatearched, 43cleft, 19, 29, 35, 40-44, 53cysts on, 32high, 10

Palpebral fissures, 10, 12, 18Parietal foramina, 3-4Peripheral retinal edema, 69Periventricular-intraventricular hemorrhage, 137-39Persistent hyperplastic primary vitreous (PHPV), 89-91Peters anomaly, 78Phenytoin, 32Philtrum, 16, 18, 20, 22-23PHPV see Persistent hyperplastic primary vitreous Pigmentation, abnormal, 123-24. See also Skin discolorationPilonidal dimples, 123, 132Pituitary, abnormal, 81Plagiocephaly, 8Poland’s anomaly, 37Polycoria, 81Polysyndactyly, 13-14Pompe’s disease, 37Popliteal pterygium syndrome, 41Porencephalic cyst, 110-11Posterior fossa cyst, 111Potter’s syndrome, 46Prematurity, 6Proboscis

absent, 21lateralis, 18superior, 21-22

Procidentia, 127Prosencephalon, 20Pseudohydrocephalus, 46, 112Pseudomona aeruginosa, 64Pseudo-Rieger’s syndrome, 81-82Ptosis, bilateral, 143Pupil

nondilatable, 97white, 91

147

148

PVH-IVH see Periventricular-intraventricular hemorrhage

Radischisis, 126Radius, absent, 18Ranula, 34Rectovaginal fistula, 5Red reflex, 59-60Refractive errors, 59-60Retention cyst, 34Retina, 59-60, 89-100Retinal hemorrhages, 62Retinitis, 64, 66Retinoblastoma, 91Retinoic acid, 51Retinopathy of prematurity (ROP), 59-60, 91-100Retinoschisis, juvenile, 98Retrolental fibroplasia see Retinopathy of prematurity Rhizomelic chondrodysplasia punctata syndrome, 88Rieger’s syndrome, 81Riga-Fede disease, 28Robin’s anomalad, 43, 53, 98Rocker-bottom feet, 126-27Rubella, 65-66, 105-6

Sagittal suture, 3, 6, 15Scaphocephaly, 6-7Schistasis, nasal, 117Schizencephaly, 133-34Seizures, 134Septicemia, 70“Setting sun” sign, 104Silver nitrate, 63Skeletal dysplasia, 9Skin

acne, 104dermal sinuses (dimples), 123, 126, 131-33discoloration, 130. See also Pigmentationtags, 25, 48-50, 54, 123-24, 130-31

Skull, 2-15, 116Spasticity, 134Spina bifida, 127, 131Spinal abnormalities, 105, 114-15, 122-30Spinal cord, tethered, 123-24, 130-32Spinal dysraphism, 131Staphylococcus aureus, 63Sternomastoid tumor, 55Stickler syndrome, 98Strabismus, 59-60Sturge-Weber syndrome, 85Subarachnoid hemorrhage, 134Subconjunctival hemorrhages, 62Subdural hematoma, 104Subependymal hemorrhage, 136-37Sucking blisters/”calluses,” 23, 32Sucking cushions, 22Superior oblique palsy, 55Sutures

coronal, 7-8, 10-11, 13, 15

lambdoidal, 8metopic, 8, 15sagittal, 3, 6, 15

Syndactyly, 10-14, 31Synostosis, premature, 15Syringomyocele, 128

Tay-Sachs disease, 90Teeth, 2, 26-32, 81Telecanthus, 73Teratoma

cervical, 1of neck, 57of tongue, 40

Tetracycline, 27, 63Thanatophoric dwarfism, 9-10Thrush, 35Thumb

absent, 18adducted, 113

Thyroglossal cyst, 39, 54-55, 57Thyroid, isthmus, 1Toes, 31Tongue, 30-31, 35-39, 52, 55, 57, 98TORCH diseases (toxoplasmosis, other, rubella virus,cytomegalovirus, herpes simplex virus), 65Torticollis, 8, 55Toxoplasmosis, 65, 67, 106Trabecular meshwork, 78Trachoma inclusion conjunctivitis (TRIC), 63Treacher-Collins syndrome, 50-51, 54, 71TRIC. See Trachoma inclusion conjunctivitisTrigonocephaly, 8Trisomy 8, 24, 44Trisomy 13, 20, 106Trisomy 21. See Down syndromeTuberous sclerosis, 86, 90Tumor

brain, 139-44in eyes, 91-92in mouth, 39Wilms’ tumor, 79

Tunica vasculosa lentis, 65, 95Turribrachycephaly, 11-13Twins, 69

Ulcer, traumatic, 34Ultrasonography, 103, 112, 134, 137-38Umbilical hernia, 36Umbilicus, abnormal, 81Uvula, split, 42

Vertebrae, abnormalities of, 114-15, 126Vitreoretinopathy, exudative, 99Vomer, protruding, 42

WAGR syndrome (Wilms’ tumor, aniridia, genitourinary anom-alies, mental retardation), 79Walker-Warburg syndrome, 97Wilms’ tumor, 79

atlas of the newborn [vol 3] - a. rudolph (bc decker, 1997) ww

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