Branchio-Oto-Renal (BOR) Syndrome-an uncommon form of congenital deafness

Authors

  • K Koirala Department of ENT and Head and Neck Surgery, T.U. Teaching Hospital, Maharajgunj, Kathmandu, Nepal
  • RPS Guagain Department of ENT and Head and Neck Surgery, T.U. Teaching Hospital, Maharajgunj, Kathmandu, Nepal
  • CL 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

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. Key words: Branchio-Oto-Renal syndrome, hearing loss, renal agenesis The full text of this paper is available at Journal of Institute of Medicine website

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Abstract
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How to Cite

Koirala, K., Guagain, R., & Bhusal, C. (2007). Branchio-Oto-Renal (BOR) Syndrome-an uncommon form of congenital deafness. Journal of Institute of Medicine Nepal, 29(1), 48–50. Retrieved from https://nepjol.info/index.php/JIOM/article/view/647

Issue

Section

Case Reports