Nasir Saheed Babatunde, Ladan Saadatu Jafar, Bemu Alfred Nicholas, Jibrin Joshua
National Ear Care Centre, Kaduna, Nigeria.
Niger Postgrad Med J. 2018 Jan-Mar;25(1):60-62. doi: 10.4103/npmj.npmj_203_17.
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.
鳃耳肾综合征是一种罕见的常染色体显性疾病,其特征为鳃弓异常、听力丧失、肾脏异常及其他耳部表现。我们报告一例新发突变病例,该病例表现为听力丧失、鳃窦及该疾病的其他表现。此病在西非地区极为罕见,对于出现鳃窦和/或听力丧失的患者,我们建议高度怀疑此病。