Bardet-Biedl Syndrome: A Rare Case Report

نویسنده

  • Sanjay Reddy
چکیده

The Bardet-Biedl syndrome (BBS) is a rare genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. It presents with varied clinical manifestations like retinitis pigmentosa, post-axial polydactyly, central obesity, mental retardation and renal dysfunction. Other rare manifestations include diabetes mellitus, heart disease, hepatic fibrosis and neurological manifestations. Its presentation with type 1 diabetes mellitus is a rare manifestation. We report a case of Bardet-Biedl syndrome presenting with type1 diabetes mellitus.

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A Case of Bardet-Biedl Syndrome

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تاریخ انتشار 2014