Branchiogenic-Deafness Syndrome

Clinical Features

Megarbane et al. (2003) described a brother and sister, offspring of consanguineous parents in a Sunni Muslim community in Lebanon, who presented with an apparently distinct syndrome consisting of congenital hearing loss, meatal atresia, preauricular tags and pits, branchial cysts or fistulae, strabismus, difficulty in opening the mouth wide, 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 fifth fingers with osseous erosions. Their father, his sister, and his half-brother had unilateral auricular pits and/or branchial cysts and short stature. All laboratory investigations were normal. Specifically, no sequence abnormality of the EYA1 gene (601653) was detected.

Inheritance

Despite the consanguinity in the family they reported, Megarbane et al. (2003) concluded that the disorder might represent a new autosomal dominant branchiogenic-deafness syndrome because of the variable expressivity on the father's side of the family.