Open AccessNephrolithiasis with Bardet-Biedl syndrome in a three-year-old girl: A case report
Author(s) -
Meral Torun Bayram,
Çağla Serpil Doğan,
Mustafa Devran Aybar
Publication year - 2014
Publication title -
pediatric urology case reports
Language(s) - English
Resource type - Journals
ISSN - 2148-2969
DOI - 10.14534/pucr.201436020
Subject(s) - girl , bardet–biedl syndrome , medicine , pediatrics , genetics , biology , phenotype , gene
Bardet-Biedl syndrome is a multisystemic developmental disorder diagnosed on the basis of the presence of obesity, retinal defects, polydactyly, hypogonadism, renal dysfunction, and learning disabilities. Renal disease is clinically heterogeneous, but is recognized as a cardinal feature and is a major cause of mortality in BBS. We here presented a three-year-old girl with renal stone and Bardet-Biedl syndrome.
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