title: A new dominant branchiogenic-deafness syndrome with internal auditory canal hypoplasia and abnormal extremities.
abstract: 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.
authors.affiliation: Unité de Génétique Médicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon. megarban@dm.net.lb
authors.forename: André
authors.initials: A
authors.lastname: Mégarbané
authors.forename: Simon
authors.initials: S
authors.lastname: Rassi
authors.forename: Eliane
authors.initials: E
authors.lastname: Chouery
authors.forename: Valérie
authors.initials: V
authors.lastname: Delague
authors.forename: Gustavo
authors.initials: G
authors.lastname: Perez de Nanclares Leal
authors.forename: Murielle
authors.initials: M
authors.lastname: Tabet
authors.forename: Luis
authors.initials: L
authors.lastname: Castaño
authors.forename: Jacques
authors.initials: J
authors.lastname: Loiselet
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001934:Branchial Region; D003638:Deafness / Q000150:complications* / Q000235:genetics; D004423:Ear / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010375:Pedigree; D035781:Siblings; D013285:Strabismus / Q000235:genetics; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*