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Page 1: Congenital Hand Anomalies and Associated Syndromes978-3-642-54610-5/1.pdf · Kenneth Jones, Congenital Malformations of the Hand and Forearm by Buck-Gramcko, and Plastic Surgery ,

Congenital Hand Anomalies and Associated Syndromes

Page 2: Congenital Hand Anomalies and Associated Syndromes978-3-642-54610-5/1.pdf · Kenneth Jones, Congenital Malformations of the Hand and Forearm by Buck-Gramcko, and Plastic Surgery ,

Ghazi M. Rayan • Joseph Upton III

Congenital Hand Anomalies and Associated Syndromes

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ISBN 978-3-642-54609-9 ISBN 978-3-642-54610-5 (eBook) DOI 10.1007/978-3-642-54610-5

Library of Congress Control Number: 2014946208Springer© Springer-Verlag Berlin Heidelberg 2014This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the mate-rial is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter devel-oped. Exempted from this legal reservation are brief excerpts in connection with reviews or scholarly analysis or material supplied specifically for the purpose of being entered and executed on a computer system, for exclusive use by the purchaser of the work. Duplication of this publication or parts thereof is permitted only under the provi-sions of the Copyright Law of the Publisher´s location, in its current version, and permission for use must always be obtained from Springer. Permissions for use may be obtained through RightsLink at the Copyright Clearance Center. Violations are liable to prosecution under the respective Copyright Law.

The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use.

Product liability: The publishers can not guarantee the accuracy of any information about dosage and application contained in this book. In every individual case the user must check such information by consulting the relevant literature.

Printed on acid-free paper

Springer is part of Springer Science+Business Mediawww.springer.com

EditorsGhazi M. RayanINTEGRIS Baptist Medical CenterOrthopaedic Surgery – HandOklahoma City, USA

Joseph Upton IIIChestnut Hill, USA

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Preface I

I first became interested in syndromic hand anomalies in 1980 when I was a hand surgery fel-low at the Raymond Curtis Hand Center in Baltimore. A patient was brought to the US from Afghanistan with a case of Klippel-Trenaunay-Webber syndrome. The patient had grotesque overgrowth of her hands and upper extremities with her fingertips reaching her knees while standing. My mentor Dr. Raymond Curtis consulted Dr. Victor McKusick, a geneticist from John Hopkins Hospital in Baltimore, who graciously came to Memorial hospital to examine the patient and gave us a fascinating impromptu lecture on the syndrome. When my career in hand surgery was launched in Oklahoma City I was fortunate to treat a prodigious number of children with congenital hand differences and various syndromes. Whenever I encountered a mysterious syndromic hand The Genetics of Hand Malformations book by Timtamy and McKusick came to the rescue.

I initially thought of and began preparing this book more than 12 years ago. In March 2000 I contacted Dr. McKusick to inquire whether he was planning to update his book and to gauge his interest in providing guidance or collaboration with me on a new publication on syndromic hand anomalies. He informed me that he had no plans to update his book and urged me to proceed with publishing my book and offered to give me advice along the way. In 2008 Dr. McKusik passed away and I felt that I owed it to him to complete this project. Hence in that year I began writing this book. I approached Dr. Joseph Upton in 2011 asking him whether he would like to collaborate on the book, offering both his expertise and extensive photo library of many of the syndromes, and fortunately he agreed immediately because the book’s subject is also of special interest to him.

Acquiring an awareness of the most common congenital hand and upper extremity anomalies and the numerous syndromes that may be associated with them is a daunting task for the physi-cian and other health professionals. To the surgeon who manages upper extremity problems, syndromes are viewed as an abstruse subject and the eponyms associated with them are most intimidating. The pediatricians and geneticists who care for children with syndromic conditions are usually unfamiliar with the intricacies of hand anomalies, the terminologies associated with them, and the various classifications of congenital hand and upper extremity conditions from a surgeon’s perspective. Physicians embarked on training programs of many medical and surgi-cal specialties are required to be familiar with syndromic upper extremity disorders and often encounter related questions in their in-training and specialty board examinations.

The purpose of this publication is to describe the most common congenital hand and upper limb anomalies and the relevant syndromes encountered with each of these anomalies in a clini-cal practice. Awareness of these associations is important for improving care of the syndromic child. This book is designed to be a reference for practicing physicians, therapists, residents, and fellows of different specialties including but not limited to genetics, pediatrics, internal medicine, and surgical disciplines such as hand, orthopedic, and plastic surgery. It can be a helpful guide for medical students as well.

This publication is organized into seven anatomical categories including; tumors/dissemi-nated, elbow, forearm/wrist, hand, thumb, digits, and skin. Within each of these main categories the most frequently encountered congenital hand and upper extremity differences are described.

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For each of the hand anomalies the book describes the most common associated syndromes. The result is 37 congenital hand and upper extremity differences and more than 127 syndromes which are discussed in a systematic and easy-to-follow format.

The information presented herein is derived from numerous sources including: articles in the literature, the Online Mendelian Inheritance of Man (OMIM) database, the landmark textbook The Genetics of Hand Malformations (1978) by Temtamy and McKusick, and the book Smith’s Recognizable Patterns of Human Malformations (2005) by Jones.

There is no current, concise reference for syndromic hand and upper extremity conditions. Temtamy and McKusick’s work was published over 30 years ago and, although unique at the time and still a classic today, some of its material is no longer current. New knowledge has evolved about congenital hand and upper extremity anomalies and numerous new syndromes have been described in the interim. We intend for this book to fill that gap and become a refer-ence for practitioners, teachers, and learners who seek to understand and recognize patients with syndromic congenital hand conditions.

Ghazi Rayan MD

vi Preface I

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Preface II

The study of congenital differences of the upper limb is a dynamic field in transition. No two hands are enantiomorphic and there are so many variations within each particular group or subgroup of anomalies that it is difficult to make much sense from what we know about each. Molecular analysis is providing insight into the mechanisms of malformation without much clinical relevance to date.

In no other field of medicine and surgery are there so many classification systems. Each week or month new syndromes are being described, most of which are labeled with nondescriptive eponyms that may be defined by the particular bias of the treating physician. For example, a child with the Poland syndrome means a chest wall deformity and no pectoralis muscle to the pediatric or thoracic surgeon, a symbrachydactyly to the hand surgeon, and a breast a/hypoplasia to the plastic surgeon. In an academic setting some use syndrome recognition to exercise their intellectual prowess during rounds or in conferences. However, the identification of a particular syndrome and all associated anomalies is of critical importance to the physicians, consultants, and families involved with these children. This field is always changing and like medical spe-cialty board examinations where the questions from one year to the next are usually the same, only the answers change.

My interest in hand surgery was kindled when I browsed through an impressive red book written by H. Kelikian, who had devoted his entire career to the description and treatment of congenital limb anomalies. As a first year medical student I didn’t know that hand surgery ex-isted as a specialty and stood in complete awe of these complex problems. Radial club hands or cleft hands seemed to be experiments in Nature beyond explanation let alone treatment. After almost four decades as a pediatric hand surgeon my book shelf contains most if not all that has been written on the subject; the most battered textbooks in need of more duck tape are (left to right) Congenital Deformities of the Hand and Forearm by H. Kelikian, The Genetics of Hand Malformations by Samia Temtamy and Victor McKusick, The Growing Hand by Amit Gupta, Simon Kay, and Luis Scheker, The Hand in Radiologic Diagnosis: With Gamuts and Pattern Profiles by Andrew Poznanski, Smith’s Recognizable Patterns of Human Malformation by Kenneth Jones, Congenital Malformations of the Hand and Forearm by Buck-Gramcko, and Plastic Surgery, four editions with the latest Volume 8 edited by Steve Mathes and Rod Hentz, and finally Vascular Anomalies by John Mulliken, Pat Burrows, and Steve Fishman. These books had become the major references for me in the treatment of syndromic children seen on an almost daily basis. I was delighted when Dr. Rayan asked me to contribute to this textbook. When asked if I had seen many of the 100 syndromes with hand anomalies, my answer was “Yes, just about all of them.” Fortunately, I had taken pictures of most.

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Compiled by two practicing hand surgeons this book is intended as a reference for those studying or treating these children. The recognition and evaluation of the many syndromes and associations containing upper limb anomalies is the primary purpose. It presents the most common syndromes involving the hand with particular reference to the accepted classification systems, anatomy, and variations seen within the upper limb. It is not intended to be a treatise on treatment but is intended to bring together much of the information for the student, teacher, and practicing physician trusted to the care of these special children.

Most of these children require multidisciplinary care from a team of specialists, who with the exception of the pediatrician and/or geneticist have their clinical blinders focused upon their own specific area of expertise. The surgeon often has the unique privilege to follow these children through their growth and development. These young patients belong to the surgeon until either he/she retires or the patient relocates. They are yours for life. It is important to treat them as a general doctor and not just a specialist; to recognize their potential problems at critical ages; refer them to appropriate care when necessary; to follow their growth through maturity; and to offer reconstructions with the best possible outcome. Advice from the knowledgeable pediatrician, internist, surgeon, therapist, and others involved in their care can make a tremen-dous difference with these children with congenital differences and will often be pivotal for their families. It is not uncommon for these patients and their families to seek advice from the pediatrician or surgeon who has followed them from birth to answer questions outside their comfort zone. For example, the knowledge that malignant endocrine tumors are very common with the Proteus syndrome may be critical for yearly surveillance long after their hand recon-struction has been completed. This book should provide a valuable reference.

Joseph Upton III MD

viii Preface II

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Introduction

Hand anatomy is unmatched in its complexity when compared to any other organ in the human body. The hand possesses intricate mechanics, refined engineering, extravagant architecture, and sophisticated geometry. The human hand embodies beauty, elegance, grace, and splendor. It is a tool of communication that expresses our thoughts and feelings. The hand is an eye for the blind, an ear for the deaf, and an articulating mouthpiece for the speech impaired. We use the hand to embrace and protect, to text and type, to feel and think. Human civilization is the gift of our hands.

Embryonic hand development is a complex and captivating process that culminates in the formation of the esthetic and functional organ that is considered to be an extension of our brain. The normal course of embryonic limb development can be affected by environmental or genetic factors. Structural, chemical, and traumatic insults can alter the natural course of limb develop-ment leading to the various congenital hand anomalies. Genetic mutations will program the limb to develop abnormally and these may be associated with various syndromes. Congenital anomalies will disturb hand anatomy and mechanics and influence the hand’s ability to function and interact with the environment. Congenital hand differences can critically impact a child’s lifestyle at home, school, and in the community. Patients with congenital hand anomalies often have syndromes that are associated with musculoskeletal and systemic abnormalities. Recog-nizing these syndromes is crucial in offering the family genetic counseling and providing the patient with the necessary treatment.

Definitions of Terms

In his book The Cannon of Medicine Ibn Sina (Avicenna, 980–1037), was the first to pioneer the idea of a syndrome in the diagnosis of specific diseases. The term syndrome is derived from the Greek sun = along or together and dromos = amongst others or course. Hence the term sundromē means concurrence of symptoms.

The term syndrome has a few definitions. In one definition syndrome is considered as a group of symptoms, signs, laboratory findings, and physiologic disturbances that are linked by a com-mon anatomical, biochemical, or pathologic history. It can be also described as a combination of structural defects that occur together and are causally related. Another definition is a certain pattern and number of anomalies or findings that are running together. Lastly, a syndrome is considered as an expression of a single allele or pair of alleles through a fortuitous collection of signs and symptoms.

The term sequence refers to a distinction between anomalies, which are intrinsic to develop-ing tissue (primordium) and those, which are extrinsic to the developing tissue. For example, the malformations seen in the Klippel-Feil condition are the result of a deficiency in early neural tube development which results in a sequence or cascade of secondary deformities such as cervical fusions, torticollis, Sprengel’s deformity, radial dysplasia, and the like. Amniotic constriction band, plagiocephaly, and the Poland sequence are examples of other conditions caused by extrinsic disruptions and not a genetic predisposition. In these situations much less importance is placed upon broad surveillance of the family pedigree and family planning.

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An association is a nonrandom propensity for certain malformations to occur more often than would be expected by chance without being an element of a syndrome.

The terms dysplasia, dysostosis, dysmorphism, and disease are sometimes used in the lit-erature in exchange for syndrome. Dysplasia means abnormal development of tissues, organs, or cells. The term dysostosis means defective ossification. Dysmorphism is an abnormality in morphologic development.

An eponym is usually a person after which a particular disease or syndrome is named. Eponymous diseases or syndromes are usually named after the physicians who described them for the first time or who offered clarification and new information about the condition that was not offered before. In rare instances these syndromes may be named after disease features, presumed cause, or in reference to geography or even a patient.

The number of syndromes related to the upper extremity is difficult to estimate. When the term syndrome is entered into Pubmed 866449 citations were listed. When the term congenital syndrome is entered into Pubmed 44120 citations are listed. When the term congenital hand syndrome is entered into Pubmed 3092 citations are listed.

For this publication we compiled the list of the most common congenital upper extremity anomalies by reviewing the literature. Excluded from this list are congenital upper extremity malformations that are not genetically predisposed or not syndromic in nature such as congeni-tal trigger thumb.

Organization of this Book

The congenital upper limb anomalies in this book are grouped into seven anatomical categories: disseminated/tumors, elbow, forearm/wrist, hand, thumb, digits, and skin. For each congenital hand anomaly, a list of any possible associated syndromes is tabulated. In addition, the most frequently associated syndromes are described in detail.

For consistency each syndrome is described and organized under 12 headings including the title along with references:Title: This describes the most commonly used eponym or term for the syndrome.AKA: Which is an acronym for also known as and includes a list of other names, terms, or eponyms that are often used in the literature for the particular syndrome. Hallmarks: This depicts the most salient or common features of the particular syndrome.Background: This heading illustrates the origin of the eponym, a history of the syndrome, and its prevalence.Etiology: This demonstrates the type of inheritance and the genetic cause of the syndrome. Presentation: Included under this heading is relevant information about the clinical presen-tation, age of onset, nature of symptoms, radiographic manifestations, pathophysiology, and prognosis.General musculoskeletal: The findings related to general musculoskeletal issues are included here.Upper extremity: This describes findings in the upper extremity from the hand to the shoulder girdle.Lower extremity: Any lower extremity findings are included from foot to pelvis.Spine: Under this heading abnormalities related to cervical, thoracic, lumbar, and the sacral spine are discussed.Craniofacial: Any anomalies related to head, neck, face, eyes, nose, or ears are discussed here.Systemic: Findings grouped under this heading are those related to neurologic, respiratory, and cardiovascular systems, as well as abdominal and pelvic organs.References: Finally, the most pertinent references are listed at the end of each described syn-drome.

x Introduction

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Lastly included under Hallmarks suggested acronyms for several syndromes that can be a used as mnemonic devices for memorizing the most salient features of these syndromes.

Classification of Hand Differences

Attempts to establish a universal classification for congenital hand anomalies have been dif-ficult because of (1) the lack of uniform terminology, (2) some anomalies can be atypical meaning they are difficult to fit into a certain category, and (3) some can be pigeon-holed into more than one category. An ideal classification system should utilize simple descriptive terms common to all, while at the same time allowing full categorization of complex cases. While being specific, it should not be too detailed and burdensome. Surgeons, geneticists, pediatricians, and embryologists should use the same terminology in order to obtain accurate incidence rates, enhance communication, and establish international comparisons of congenital hand anomalies.

The first classification for congenital hand anomalies was probably in 1832 by St. Hilaire.[1] Several other classifications have been proposed since that time. In the mid 20th century the National Research Council adopted the Frantz and O’Rahilly [2] classification, which was based on skeletal appearance. Temtamy and McKusick [3] in 1969 classified hand malforma-tions into seven groups based on anatomic and genetic characteristics and divided each group into two categories, those isolated and those associated with other anomalies. The seven groups include: (1) Absence deformities, (2) Brachydactyly, (3) Syndactyly, (4) Polydactyly, (5) Con-tracture deformities, (6) Symphalangism, and (7) Anomalies with ring constrictions. None of these classifications became universally accepted.

The American Society for Surgery of the Hand and the International Federation of Societies for Surgery of the Hand adopted a classification system that was proposed by Swanson, Barsky, and Entin [4] in 1968. This system albeit not perfect is the most consummate and currently the most widely used by surgeons and encompasses seven categories. The adoption of this classi-fication system by the hand surgery community has enhanced our ability to communicate more clearly about the various anomalies and improved our understanding of their epidemiology.

This classification encompasses seven categories as follows:

I Failure of formation

II Failure of differentiation

III Duplication

IV Undergrowth

V Overgrowth

VI Constriction band

VII General skeletal anomalies

According to Giele et al. [5] the prevalence of the seven categories in order of frequency is as follows: Failure of differentiation (35 %), Duplication (33 %), Failure of formation (15 %), Undergrowth (10 %), Generalized skeletal abnormalities (3 %), Constriction band (3 %), Over-growth (1 %).

Although this is the most widely used classification system, it has some limitations. Many anomalies fit into several categories while some are difficult to fit into any. When multiple deformities are encountered it is difficult to decide which is the principal deformity and hence classify it appropriately. Additionally, this classification has no established format for includ-ing or excluding congenital hand anomalies associated with syndromic conditions. Flatt [5] correctly pointed out in his book, “Classifications are only conveniences, and it is not possible to precisely classify all hand malformations. The value of a classification is that it enables

xiClassification of Hand Differences

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comparisons to be drawn and incidence rates to be established. The problem has always been to develop a classification midway between one so general that it is valueless and one so detailed that its use becomes impossible.”

References

1. St. Hillaire IG. Histoire Générale et Particuli; agere des Anomalies de l’Organisation chez l’Homme et les Animaux. Paris: B Bailli; agere; 1832.

2. Frantz, CH, O’Rahilly R. Congenital skeletal limb deficiencies. J Bone Joint Surg. 1961;43 A:1202.3. Temtamy S, McKusick V. A. Synopsis of hand malformations with particular emphasis on genetic factors.

Birth Defects. 1969;5:125–84.4. Swanson AB, Barsky AJ, Entin MA. Classification of limb malformations on the basis of embryology failure.

Surg Clin North Am. 1968;48:1169.5. Giele H, Giele C, Bower C, et al. The incidence and epidemiology of congenital upper limb anomalies: A

total population study. J Hand Surg (Am]) July 2001;26(4):628–34.6. Flatt AE. The care of congenital hand anomalies. 2nd ed. St. Louis: Quality Medical Pub; 1994.

Epidemiology of Congenital Hand Anomalies

The prevalence rate of a particular disease is the number of cases in a defined population at a specific point in time. One challenge facing investigators of children with congenital hand anomalies is inconsistency in the method of obtaining and reporting their prevalence. It is dif-ficult to ascertain the prevalence of different anomalies from various studies without incurring some deviation from the “true” values of prevalence. This is because of the following fac-tors: (1) There are a limited number of epidemiologic population-based studies which are the most accurate reflection of prevalence information. While some authors restricted their data to practice-based percentages or what Lamb called “clinic incidence”, others provided limited population estimations. (2) Pooling data from different geographic locations and demographics can lead to under or over reporting of certain congenital hand anomalies that may have much higher prevalence in some populations compared to others. (3) Under reporting of “minor” congenital hand anomalies as patients with these anomalies may not be referred to a hand specialist and therefore are not included in practice-based percentages. (4) Until recently lack of uniformity or grouping of congenital hand anomalies by a classification system has been challenging in terms of reporting prevalence rates especially those associated with syndromes. (5) The application of the terms “incidence” and “prevalence”, where their definitions are used loosely and interchangeably.

Throughout the literature different methods of reporting prevalence values have been used to express the frequency of congenital hand anomalies. For example, a prevalence value per 1,000 has been used [1] to estimate syndactyly with an estimation of 05/1,000; additionally a preva-lence value per 2,500 has been used [2] reporting a syndactyly prevalence of 1/2500; and lastly a prevalence value per 1,000,000 has been reported [3] for syndactyly of 12.4/1,000,000.

We propose uniform reporting in future epidemiologic studies of congenital hand anoma-lies and syndromes using a standard prevalence rate value per 10,000. This should minimize confusion and improve reporting of hand differences and recollection of their prevalence rates.

Birch-Jensen [4] in a cross-sectional study conducted in Denmark from 1943 to1947 found that absence deformities (failure of formation) of the upper limb had a prevalence rate of 625 per 4 million patients. However, one of the main drawbacks of the study was that it did not include polydactyly which is one of the most common upper extremity anomalies.

In 1982 Lamb [5] estimated the incidence of upper limb malformations to be approxi-mately 11 per 10,000 live births. The most common congenital upper extremity malformations were in order of frequency: syndactyly, polydactyly, and camptodactyly.

In 2001 Giele et al. [6] conducted a population study in Western Australia and found the prevalence of upper limb anomalies to be 1 in 506, which is approximately 20 per 10,000. Forty-

xii Introduction

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six percent of those affected had other nonhand congenital anomalies. Fifty-one percent had bilateral hand anomalies, and 17 % had multiple different hand anomalies. The most common anomalies in order of frequency were failures of differentiation (35 %), duplications (33 %), and failures of formation (15 %). Congenital upper limb anomalies were more common in boys; preterm, post-term, and multiple births; and older mothers.

In 2010 Ekblom et al. [7] carried out a population study in a region of Stockholm (Swe-den) and found the incidence of upper limb congenital anomalies to be 21.5 per 10,000 live births. Mostly boys were affected and had bilateral anomalies. Failure of differentiation was the most common category (276 of 585) followed by duplication (155 of 585), failure of formation (103 of 585), undergrowth (18 of 585), generalized abnormalities and syn-dromes (14 of 585), overgrowth (10 of 585), and constriction ring syndrome (9 of 585).

References

1. Goldberg M, Bartoshesky L. Congenital hand anomaly: Etiology and associated malformations. Hand Clin-ics 1 (3) 1985 405–15.

2. Eaton C, Lister G. Syndactyly. Hand Clinics 6 (4) 1990 555–753. Rebelo N, Duarte R, Costa MJ, et al. Acrocephalosyndactyly – the coalesced hand. Eur J Pediatr Surg. 2002

Feb;12(1):49–55.4. Birch-Jensen A. Congenital deformities of the upper extremities [Thesis]. The cooperative printing house in

Odense and the Danish population house; 1949.5. Lamb DW, Wynne-Davies R, Solo L. An estimate of the population frequency of congenital malformations

of the upper limb. J Hand Surg [Am]. 1982; 7: 557–62.6. Giele H, Giele C, Bower C, et al. The incidence and epidemiology of congenital upper limb anomalies: A

total population study. J Hand Surg [Am]. July 2001; 26(4): 628–34.7. Ekblom A, Laurell T, Arner M. Epidemiology of Congenital Upper Limb Anomalies in 562 Children Born

in 1997 to 2007: A Total Population Study from Stockholm, Sweden. Journal of Hand Surgery; ▶ 35, 11, 1742–1754, 2010

xiiiEpidemiology of Congenital Hand Anomalies

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Table of Contents

I Tumors/Disseminated 1

1 Enchondromas 3

2 Osteochondromas 11

3 Neurofibromas 19

4 Vascular Malformations 29

5 Congenital Joint Contractures 59

6 CongenitalJointLaxity/Instability 81

II Elbow 93

7 Radial Head Dislocation 95

8 ElbowSynostosis 105

III Forearm/Wrist 119

9 RadialDeficiency 121

10 UlnarDeficiency 149

11 Phocomelia(SegmentalDeficiency) 165

12 Amelia/Hemimelia 173

13 Mesomelia/Rhizomelia 185

14 Madelung Deformity 191

15 UlnarDimelia(MirrorHand) 197

16 CarpalSynostosis(Coalition) 205

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IV Hand 213

17 Overgrowth(Macrodactyly) 215

18 CleftHandandCentralDeficiencies 247

19 CongenitalUlnarDrift(WindblownHand) 263

20 Brachymetacarpia 279

21 Metacarpal Synostoses 291

22 PhalangealSynostosis(Symphalangism) 297

V Thumb 303

23 ThumbHypoplasia 305

24 TriphalangealThumb 325

25 Radial(Preaxial)Polydactyly 335

26 CongenitalClaspedThumb 343

VI Digits 349

27 Clinodactyly 351

28 Syndactyly 367

29 Brachydactyly 395

30 Ulnar(Postaxial)Polydactyly 407

31 Five-Fingered Hand 421

32 Congenital Middle Finger in Palm 427

33 Symbrachydactyly(AtypicalCleftHand) 439

34 Camptodactyly 451

35 Arachnodactyly 461

36 CongenitalNailDysplasia(Onychodysplasia) 469

xvi Table of Contents

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VII Skin 475

37 Congenital Skin Dysplasia 477

Glossary Of Terms 491

SubjectIndex 493

xvii Table of Contents

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List of Hand Conditions

1. Multiple enchondromas2. Multiple osteochondromas3. Multiple neurofibromas4. Vascular malformations5. Congenital joint contracture6. Congenital joint laxity/instability7. Radial head dislocation8. Elbow synostosis9. Radial deficiency10. Ulnar deficiency11. Phocomelia (segmental deficiency)12. Amelia/hemimelia (transverse deficiency,

congenital amputation)13. Mesomelia/Rhizomelia14. Madelung deformity15. Ulnar dimelia (mirror hand)16. Carpal synostosis17. Overgrowth (Macrodactyly)18. Cleft hand

19. Congenital ulnar drift (Windblown hand)20. Brachymetacarpia21. Metacarpal synostosis22. Phalangeal synostosis23. Thumb hypoplasia24. Triphalangeal thumb25. Radial (preaxial) polydactyly26. Congenital clasped thumb27. Clinodactyly28. Syndactyly29. Brachydactyly30. Ulnar (postaxial) polydactyly31. Five-fingered hand32. Congenital middle finger in palm33. Symbrachydactyly34. Camptodactyly35. Arachnodactyly36. Congenital nail dysplasia37. Congenital skin dysplasia

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List of Hand Syndromes

1. Ollier disease2. Maffucci syndrome3. Ehrenfried’s disease 4. Langer-Giedion syndrome (tricho-

rhino-phalangeal)5. Trevor disease (Dysplasia epiphysealis

hemimelica)6. Von Recklinghausen disease (Neurofi-

bromatosis, Type I)7. Noonan syndrome8. Klippel-Trenaunay-Webber syndrome9. Blue rubber bleb nevus syndrome10. CLOVES syndrome11. Bockenheimer syndrome12. Glomuvenous malformation syndrome13. PTEN 14. PHOST 15. Parkes-Weber syndrome16. Arthrogryposis Multiplex Congenita17. Distal arthrogryposis syndrome, Type I18. Beals syndrome (Contractural arachno-

dactyly)19. Hurler syndrome20. Pseudo-Hurler syndrome21. Schwartz-Jampel syndrome22. Ehlers-Danlos syndrome 23. Osteogenesis imperfecta syndrome,

Type I 24. Down syndrome25. LEOPARD syndrome26. Klippel-Feil syndrome27. Seckel syndrome 28. Larsen syndrome29. Antley-Bixler syndrome 30. Pfeiffer syndrome31. FAS (fetal alcohol syndrome)32. TAR (thrombocytopenia absent radius)

syndrome33. VACTERL association34. Nager syndrome35. Goldenhar syndrome

36. Duane syndrome37. Hemifacial microsomia radial defect

syndrome38. Baller-Gerold syndrome 39. Cornelia de Lange syndrome40. Femur-fibula-ulna syndrome 41. Ulnar-mammary syndrome 42. Gene-Wiedemann syndrome43. Roberts syndrome44. Al-Awadi/Raas-Rothschild syndrome

(Schinzel phocomelia)45. Adam-Oliver syndrome46. Grebe syndrome47. Hanhart syndrome 48. Oromandibular-limb hypogenesis spec-

trum49. Achondroplasia 50. Robinow syndrome51. Mesomelia synostosis syndrome52. Rhizomelia chondrodysplasia punctata53. Langer mesomelic dysplasia54. Léri-Weill syndrome (dyschondroste-

osis)55. Laurin-Sandrow syndrome56. Muenke syndrome57. Nievergelt syndrome58. Hemihypertrophy syndrome59. Proteus syndrome60. McCune-Albright syndrome61. Lipomatous microdactyly syndrome62. Soto syndrome63. EEC (ectrodactyly-ectodermal dyspla-

sia cleft palate) syndrome64. Goltz-Gorlin syndrome65. Prader-Willi syndrome66. Digito-talar dysmorphism 67. Escobar (Multiple pterygium) syn-

drome 68. Waardenburg syndrome69. Albright pseudohypoparathyroidism

syndrome

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70. Turner syndrome71. Gorlin-Goltz (Nevoid basal cell carci-

noma) syndrome72. Maroteaux-Malamut syndrome73. Multiple synostosis syndrome74. Cushing symphalangism syndrome75. Diastrophic dysplasia76. Juberg-Howard syndrome77. Rubenstein-Taybi syndrome78. Holt-Oram syndrome79. Fanconi Pancytopenia80. Hand-Foot-Uterus syndrome81. Aase syndrome (Diamond-Blackfan

anemia)82. Townes-Brocks syndrome 83. Levy-Hollister syndrome84. Werner syndrome85. MASA syndrome86. Stuve-Wiedemann syndrome87. Silver-Russell syndrome88. Pierre-Rubin (Catel-Manzke) syn-

drome 89. Duplication 3q syndrome 90. Peter-Plus syndrome91. Epidermal nevus syndrome92. Apert syndrome93. 2q31.1 microdeletion syndrome94. Oculodentodigital syndrome95. Synpolydactyly 1 syndrome96. Synpolydactyly 2 syndrome97. Popliteal pterygium syndrome98. Fraser syndrome

99. Saether-Chotzen syndrome 100. Oral-Facial-Digital syndrome, Type I 101. Aarskog syndrome102. Du Pan syndrome103. Feingold syndrome104. Pallister-Hall syndrome105. Ellis-van Creveld syndrome106. Bardet-Biedl syndrome107. Mohr syndrome108. McKusick-Kaufman syndrome109. Acrocallosal syndrome110. Tibial hypoplasia – Polydactyly syn-

drome111. Freeman-Sheldon syndrome112. Oto-palato-digital syndrome, Type II113. Poland syndrome114. Mobius syndrome115. Hecht syndrome 116. Trisomy 8 syndrome117. Marfan syndrome118. Shprintzen-Goldberg syndrome 119. Loeys-Dietz syndrome120. Marden-Walker syndrome121. Nail-patella syndrome122. DOOR syndrome (deafness osteo ony-

chodystrophy)123. Zinsser-Engman-Cole syndrome124. Epidermis Bullosa 125. KID syndrome126. Amniotic constriction band127. Stiff skin syndrome

xxii List of Hand Syndromes

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About the Authors

Ghazi Rayan MD

Dr. Ghazi M. Rayan is Clinical Professor in Orthopedic Surgery and Adjunct Professor of Anatomy in the Cell Biology Department at the University of Oklahoma. He has also been Di-rector of the Oklahoma Hand Surgery Fellowship Program for almost 25 years and is Chair of the Division of Hand Surgery at the INTEGRIS Baptist Medical Center, Oklahoma City. He has appeared in the Consumers’ Research Council of America’s Guide to America’s Top Surgeons in each year since 2002 and has also appeared in Castle Connolly Medical Ltd.’s America’s Top Doctors. He is a member of the editorial board for the Journal of Hand Surgery and is a consultant reviewer for a number of peer-reviewed journals. Dr. Rayan has written more than 170 journal articles and 30 book chapters and has been the editor of 7 books.

Joseph Upton III MD

Dr. Upton received his BA from Yale University and his medical degree from Baylor College of Medicine in Houston, Texas in 1970. He completed his surgical residency at Yale-New Haven Hospital in New Haven, Connecticut in 1972, and was an orthopedic surgeon in the US Army stationed at the Eisenhower Medical Center in Augusta, Georgia in 1974. He completed his Plastic and Reconstructive Surgery residency at St. Joseph Hospital in Houston, Texas in 1976 and a Fellowship in Hand Surgery at the Roosevelt Hospital in New York, New York in 1977.

Dr. Upton’s practice is one of the world’s largest specializing in congenital hand deformities, vascular anomalies, and pediatric and adult microsurgery. He is on staff at many local hospitals including Children’s Hospital Boston, Beth Israel Deaconess Medical Center, and Shriners Hospital for Children.

Dr. Upton is Clinical Professor of Surgery at Harvard Medical School and Director of the Hand Fellowship Program at Beth Israel Deaconess Medical Center. Among many other works, he is the co-author of the Thumb and Digit Reconstruction, has edited 3 books in hand surgery, has over 300 publications in journals and textbooks, and has a permanent exhibit at the Boston Museum of Science.

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