title: Bardet-Biedl syndrome: a rare case report from North India.
abstract: 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.
authors.affiliation: Department of Skin and Veneral Diseases, G.G.S. Medical College, Faridkot, Punjab, India.
authors.forename: Sumir
authors.initials: S
authors.lastname: Kumar
authors.forename: Bharat B
authors.initials: BB
authors.lastname: Mahajan
authors.forename: Jyotisterna
authors.initials: J
authors.lastname: Mittal
mesh_terms: D000293:Adolescent; D020788:Bardet-Biedl Syndrome / Q000473:pathology*; D006801:Humans; D007006:Hypogonadism / Q000473:pathology*; D007194:India; D008607:Intellectual Disability / Q000473:pathology*; D008297:Male; D009765:Obesity / Q000473:pathology*; D058499:Retinal Dystrophies / Q000473:pathology*