Renal failure and deafness: branchio-oto-renal syndrome.
Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant condition that may present with hearing loss, branchial cysts, and renal failure. The characteristic phenotypic expression of the full syndrome may be partial or complete, and a whole range of renal abnormalities may be present. Its similarity to Alport's syndrome may lead to misdiagnosis. We report here a case of adult-onset renal failure in a 44-year-old white man previously believed to have Alport's syndrome and a review the relevant literature.
Misra
M
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Division of Nephrology, University of Missouri Health Sciences Center, Columbia 65212, USA. karl_nolph@muccmail.missouri.edu
Nolph
K D
KD
D000328:Adult; D019280:Branchio-Oto-Renal Syndrome / Q000175:diagnosis / Q000235:genetics; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male