Bardet-Biedl syndrome: a rare case report from North India.

Indian J Dermatol Venereol Leprol

Department of Skin and Veneral Diseases, G.G.S. Medical College, Faridkot, Punjab, India.

Published: July 2012

The Bardet-Biedl syndrome (BBS) is a rare ciliopathic human autosomal-recessive disorder, affecting multiple organ systems. Less than 15 cases have been reported from India. The authors present a classical case of BBS presenting to dermatology outpatient with hypogonadism and features such as marked central obesity, retinal dystrophy, polydactyly, structural renal abnormalities and mental retardation, along with a brief review of the literature. This case exemplifies the need for multidisciplinary management in such cases.

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http://dx.doi.org/10.4103/0378-6323.93656DOI Listing

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