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 NET CASE
Year : 2012  |  Volume : 78  |  Issue : 2  |  Page : 228-

Bardet-Biedl syndrome: A rare case report from North India


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

Correspondence Address:
Jyotisterna Mittal
102, Good Earth Colony, B/s New Moti Palace, Patiala - 147 001, Punjab
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0378-6323.93656

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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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Online since 15th March '04
Published by Wolters Kluwer - Medknow