Branchiootorenal syndrome: A case report

Abstract

Branchiootorenal syndrome is a rare autosomal dominant disorder characterised by branchial arch anomaly, hearing loss, renal anomalies and other otologic manifestations. We report a case of apparent de novo mutation that presented with hearing loss, branchial sinus and other manifestations of the disease. It is extremely rare in the West African region, and we suggest a high index of suspicion in a patient presenting with branchial sinus and/or hearing loss.

Keywords

• branchial sinus
• branchiootorenal syndrome
• hearing loss
• renal agenesis