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Nephrolithiasis with Bardet-Biedl syndrome in a three-year-old girl: A case report
Journal: Pediatric Urology Case Reports (Vol.1, No. 3)Publication Date: 2014-05-01
Authors : Meral Torun Bayram; Cagla Serpil Dogan; Mustafa Devran Aybar;
Page : 21-26
Keywords : Bardet-Biedl syndrome; nephrolithiasis; renal disease; child;
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Abstract
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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Last modified: 2014-05-01 03:13:47