2012/01/01 by Jyotisterna Mittal, Sumir Kumar, BharatB Mahajan · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Genetic and Kidney Cyst Diseases #Genetic Syndromes and Imprinting #Biomedical Research and Pathophysiology
paper · pdf · doi:10.4103/0378-6323.93656
openalex publication_date 2012/01/01 · openalex created_date 2016/06/24 · openalex updated_date 2026/06/11
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.