A new dominant branchiogenic‐deafness syndrome with internal auditory canal hypoplasia and abnormal extremities

Two sibs from one Lebanese family presented with congenital hearing loss, meatal atresia, preauricular tags and pits, branchial cysts or fistulae, strabismus, difficulty in opening the mouth wide enough, abnormal fifth fingers, somewhat short stature, and learning disability and patchy skin depigmen...

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Bibliographic Details
Published in:American journal of medical genetics 2003-07, Vol.120A (2), p.276-282
Main Authors: Mégarbané, André, Rassi, Simon, Chouery, Eliane, Delague, Valérie, Leal, Gustavo Perez de Nanclares, Tabet, Murielle, Castaño, Luis, Loiselet, Jacques
Format: Article
Language:English
Subjects:
abnormal fingers
Abnormalities, Multiple - genetics
Adult
atretic acoustic meatus
auditory canal hypoplasia
Biological and medical sciences
branchial arch
Branchial Region
conductive deafness
Deafness - complications
Deafness - genetics
Ear - abnormalities
Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology
Female
Genes, Dominant
Humans
Male
Medical sciences
Non tumoral diseases
Otorhinolaryngology. Stomatology
Pedigree
sensorineural hearing loss
Siblings
Strabismus - genetics
Syndrome
Toes - abnormalities
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Summary:Two sibs from one Lebanese family presented with congenital hearing loss, meatal atresia, preauricular tags and pits, branchial cysts or fistulae, strabismus, difficulty in opening the mouth wide enough, abnormal fifth fingers, somewhat short stature, and learning disability and patchy skin depigmentation in one. Temporal bone abnormalities identified on computed tomography included atresia of the external auditory canal with reduction in size of the middle ear, malformed ossicles, and unilateral internal auditory canal hypoplasia. Hand radiographs showed pointed phalanges of the 5th fingers with osseous erosions. Their father, his sister, and his half‐brother had unilateral auricular pits and/or branchial cysts. Results of all laboratory investigations including sequencing of the EYA1 gene were normal. Differential diagnosis is discussed and the possibility of the report of a new autosomal dominant type of branchiogenic‐deafness syndrome with variable expressivity is raised. © 2003 Wiley‐Liss, Inc.
ISSN:1552-4825
0148-7299
1552-4833
1096-8628
DOI:10.1002/ajmg.a.20077