Branchio-oto-renal syndrome.
Branchio-oto-renal (BOR) syndrome is a rare, autosomal dominant genetic disorder involving branchial cleft and renal anomalies, hearing loss, and other otologic manifestations. We report a case of a family with three generations of branchial cleft anomalies and otologic anomalies with hearing loss. A review of the literature, classic clinical presentations, associated findings, and the differential diagnosis of BOR syndrome is presented. Due to BOR syndrome's variability of both penetrance and expression and a high incidence of renal the practicing otolaryngologist should consider BOR syndrome when evaluating hearing loss and branchial cleft remnants in any child.
Millman
B
B
Department of Otolaryngology, Geisinger Medical Center, Danville, Pa, USA.
Gibson
W S
WS
Foster
W P
WP
D000015:Abnormalities, Multiple / Q000235:genetics*; D001299:Audiometry; D001934:Branchial Region / Q000002:abnormalities*; D005260:Female; D006311:Hearing Disorders / Q000235:genetics*; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities*; D010375:Pedigree; D013577:Syndrome