| Literature DB >> 9708623 |
Abstract
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.Entities:
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Year: 1998 PMID: 9708623 DOI: 10.1053/ajkd.1998.v32.pm9708623
Source DB: PubMed Journal: Am J Kidney Dis ISSN: 0272-6386 Impact factor: 8.860