Nephrolithiasis with Bardet-Biedl syndrome in a three-year-old girl: A case report


Meral Torun Bayram, Cagla Serpil Dogan, Mustafa Devran Aybar

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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