Bardet-Biedl Syndrome: A Rare Case Report
Journal Title: Scholars Journal of Medical Case Reports - Year 2014, Vol 2, Issue 4
Abstract
Abstract: 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. Keywords: inherited disorder, diabetes mellitus, Bardet-Biedl syndrom
Authors and Affiliations
Rajkumar . , Revana Siddappa H. G, Praveen Kumar AS, Sanjay Reddy, Y. J. V Reddy
Keywords
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