title: a case of isolated hemifacial microsomia authors: dr abimanyu s co-authors :, dr joice...
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Title: A Case of Isolated Hemifacial Microsomia
Authors: Dr Abimanyu S
Co-authors :, Dr Joice Upendra kumar ,Dr Tukaram Dr Satyendra Raghuvanshi
Institution: Dept of Radiology, Command Hospital, Airforce, Bangalore, India
• A 5yrs old male child was referred for HRCT of temporal bone with a
clinical diagnosis left EAC atresia.
• The clinical assessment at radiology clinic revealed, that the patient was
second child in his family, born out of non consanguineous marriage.
There was no history of perinatal and post natal hypoxic insult, no family
history of congenital abnormalities and no history of a known terotogenic
drug intake by mother during the confinement.
Clinical examination
• On examination, there was no
developmental delay. The face
was asymmetrical and triangular
with Hypoplasia of left side. The
left external ear was hypoplastic
and malformed with no external
ear opening. A pre auricular tag
was present. (Written consent has
been taken from patient)
• Patient was unable to puff air in
his left cheek and appose his left
eyelids. However there was no
evidence of deviation of mouth
and he could frown his forehead.
This could be due to left lower
motor neuron type of facial
paresis or due to Hypoplasia of
left side of face.
HRCT
Coronal reformatted image at the level of EAC shows complete absence of EAC
Normal side Affected side
Coronal reformatted CT images at the level of TMJ reveal hypoplatic glenoid fossa and condyle of the mandible.
Normal side Abnormal side
Axial images at the level of middle ear shows. Hypoplastic middle ear cavity with absence of middle ear ossicles and atresia of EAC. Also note absence off mastoid aircells. Inner ear appears normal
Coronal reformatted image of left inner ear. There is depressed tegmen tympani because of hypoplastic middle ear canal. There is an abnormal anterior displacement of facial nerve. Inner ear
appears normal
Axial image showing hypoplastic medial and lateral pterigoid muscles, masseter and temporalis muscles
Volume rendered saggital image shows hypoplatic malformed mandible pseudo articulates with hypoplatic malformed zygomatic arch and absence of
glenoid fossa (Type II TMJ ).Also note absence of EAC.
Discussion
• In view of the above clinical and radiological features the following
differentials were considered:
1. Hemifacial microsomia
2. Golden har syndrome
3. Trechers Collins syndrome
• Additional imaging was done to confirm the diagnosis. MRI whole spine
revealed no segmental abnormality. Echocardiography was normal. This
ruled out the Golden har syndrome.
• Unilateral involvement, absence of family history of similar abnormality
and other ocular and nasal features of Treacher Collin syndrome were
absent. Thus establishing a diagnosis of Hemifacial Microsomia.
• Hemifacial microsomia is clinical spectrum of variable hypoplasia of
derivatives of 1st and 2nd branchial arches and this is the 2nd most common
congenital abnormality of face with an incidence of 1 in 3500 live births.
However it is an under diagnosed entity[1-3].
• This not genetic disorder and the proposed etiology is
hemorrhage/hematoma in 1st and 2nd branchial arches around 4th week of
intrauterine life[ 4 ]. This might occur due to a teratogenic drug intake by
the mother during early confinement[4 ].
Clinical and radiological features
• Three types of abnormalities can occur around temporomandibular joint.[ 5 ]
– Type I: Mild hypoplasia of the ramus
– Type II:
– Type IIA- The condyle and ramus are small with a normal temporo
mandibular joint
– Type IIB- Hypoplastic condyle and ramus, displaced towards midline, with a
flattened head of mandibular condyle, absent glenoid fossa with
psuedoarticulation of the temporo mandibular joint.
– Type III: The ramus is reduced to a thin lamina of bone or may be absent.No
evidence of a temporomandibular joint
Other skeletal abnormalities reported are[6&8]:
• There is descent of tegmen tympani which gives a gutter-shaped depression in
the floor of the middle cranial fossa. Maxilla is reduced in vertical height.[7]
• Zygoma is hypoplastic in all dimension or may be absent
• Orbit –Reduced size in all dimensions
• Hypoplastic mastoid process with partial / complete absence pneumatization
• Hypoplastic /absent styloid process
• Flattened frontal bone
• Ear abnormalities reported include[6&8]:
– Pre auricular skin tag.
– Atresia of external auditory canal
– Fusion of malformed hypoplastic malleus and incus to atretic lateral
wall
– Variable hypoplasia of ossicles
– Absence of ossicles
• Facial nerve abnormalities reported include:
– Absence of intracranial portion.
– Absence of brain stem nucleus
– Abnormal course of facial nerve- Anterior displacement of descending
tympanic portion
References
[1]Cohen M.M. Jr, Rollnick B.R., Kaye C.I.: Oculoauriculovertebral
spectrum: an updated critique. Cleft Palate Craniofac. J. 1989, 26, 276–
286.
[2] Dhillon M., Mohan R.P., Suma G.: Hemifacial microsomia: a
clinicoradiological report of three cases. J. Oral Sci. 2010, 52, 319–324.
[3] Monahan R., Seder K., Patel P., Alder M., Grud S., O’Gara M.: Hemifacial
microsomia: etiology, diagnosis and treatment. J. Am. Dent. Assoc. 2001,
132, 1402–1408.
[4] Poswillo D.: The pathogenesis of the first and second branchial arch
syndrome. Oral Surg. Oral Med. Oral Pathol. 1973, 35, 302–328.
[5] Pruzansky S.: Not all dwarfed mandibles are alike. Birth Defects 1969, 5,
120.
[6] Kane A.A., Lo L.J., Christensen G.E., Vannier M.W., Marsh J.L.:
Relationship between bone and muscles of mastication in hemifacial
microsomia. Plast. Reconstr. Surg. 1997, 99, 990–997.
[7] Peter .D.Phlebs :The petrous temporal bone ; Text book of radiology and
imaging ;David Sutton.2003,52,1604-1605
[8] Raymond W., Angelisa M. Paladin., Samson Lee. , Michael L.
Cunningham: Hemifacial Microsomia in Pediatric Patients:Asymmetric
Abnormal Development of the First and Second Branchial Arches. AJR
2002;178:1523–1530 0361–803X/02/1786–1523
Acknowledgements:
• Gp Capt A Alam,MD,DNB,Sr Adv and HOD, Department of Radiodiagnosis, Command hospital, Airforce Bangalore
• Col RA George,MD,DNB, Sr Adv, Department of radiodiagnosis, Command hospital, Airforce Bangalore
• Gp Capt H Sahni, MD,DNB,DM(Interventional and neuroradiology ) Sr Adv and HOD, Department of radiodiagnosis, Base hospital, Delhi
• Wg Cdr Samresh Sahu ,MD,DNB,Assistant professor ,Department of radiodiagnosis ,INHS ,Aswhni
• Wg Cdr Rohit Aggarwal .MD,DNB,Assistant professor ,Department of radiodiagnosis ,Command hospital, Airforce Bangalore
• Wg Cdr A Raheem .MD,DNB,Assistant professor ,Department of radiodiagnosis ,Command hospital, Airforce Bangalore