Bardet-Biedl Syndrome- A Case Report
Journal Title: Scholars Journal of Applied Medical Sciences - Year 2018, Vol 6, Issue 7
Abstract
Bardet-Biedl syndrome (BBS) is a rare ciliopathic autosomal recessive genetic disorder. It presents with varied clinical manifestations like retinitis pigmentosa, polydactyly, central obesity, mental retardation and renal dysfunction. Other rare manifestations include diabetes mellitus, heart disease, hepatic fibrosis and neurological manifestations. Most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life. We, here, have presented a 4-year-old girl with features of Bardet-Biedl syndrome. Abbreviations: BBS- Bardet-Biedl syndrome.
Authors and Affiliations
Dr. Suraiya Begum, Dr. Md. Benzamin, Dr. Muhammad Rezaul Karim, Dr. Abul Bashar Md Osman Hayder Mazumder
Keywords
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