| Literature DB >> 22421669 |
Sumir Kumar1, Bharat B Mahajan, Jyotisterna Mittal.
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.Entities:
Mesh:
Year: 2012 PMID: 22421669 DOI: 10.4103/0378-6323.93656
Source DB: PubMed Journal: Indian J Dermatol Venereol Leprol ISSN: 0378-6323 Impact factor: 2.545