Open AccessBranchiootorenal syndrome: A case report
Author(s) -
Saheed Babatunde Nasir,
Saadatu Jafar Ladan,
Alfred Nicholas Bemu,
Joshua Jibrin
Publication year - 2018
Publication title -
nigerian postgraduate medical journal
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.261
H-Index - 19
ISSN - 1117-1936
DOI - 10.4103/npmj.npmj_203_17
Subject(s) - hearing loss , medicine , sinus (botany) , rare disease , index case , audiology , anatomy , disease , pathology , biology , botany , genus
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.