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 anomalies, the practicing otolaryngologist should consider BOR syndrome when evaluating hearing loss and branchial cleft remnants in any child.
(Arch Otolaryngol Head Neck Surg. 1995;121:922-925)
Millman B, Gibson WS, Foster WP. Branchio-oto-renal Syndrome. Arch Otolaryngol Head Neck Surg. 1995;121(8):922–925. doi:10.1001/archotol.1995.01890080088017
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: