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.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.4103/0378-6323.93656 | DOI Listing |
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!