Article: Branchio-Oto-Renal (BOR) Syndrome-an uncommon form of congenital deafness
Abstract
Case report: Children with congenital deafness are common referrals to the Pediatric Otolaryngology unit of the Teaching Hospital. Branchio-Oto-Renal (BOR) Syndrome, an autosomal dominant syndromic form of deafness presents variably with the presence of auricular or preauricular pits in association with hearing loss, branchial sinuses and renal abnormalities ranging from renal hypoplasia to agenesis. Renal manifestations are least common and mostly missed. The present case report highlights a case of Branchio-Oto-Renal syndrome detected at the age of 5 years with unilateral renal agenesis and normal renal function.
Keywords: Branchio-Oto-Renal syndrome, hearing loss, renal agenesis
K. Koirala
Department of ENT and Head and Neck Surgery, T.U. Teaching Hospital, Maharajgunj, Kathmandu, Nepal
R.P.S Guragain
Department of ENT and Head and Neck Surgery, T.U. Teaching Hospital, Maharajgunj, Kathmandu, Nepal
C.L Bhusal
Department of ENT and Head and Neck Surgery, T.U. Teaching Hospital, Maharajgunj, Kathmandu, Nepal
Keywords
Branchio-Oto-Renal syndrome, hearing loss, renal agenesis
Identifier
https://doi.org/10.59779/jiomnepal.281
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