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.
Abnormalities, Multiple↗