Bardet-Biedl syndrome is an autosomal recessive condition that was first described in the 1920s. The cardinal features of the syndrome include obesity, polydactyly, hypogenitalism mental retardation, and a pigmentary retinopathy. Renal problems were later found to be associated with this syndrome. Several genotypes have recently been identified mapping to chromosomes 3 and 16q.
Journal:
Update on Strabismus and Pediatric Ophthalmology Proceedings of the June, 1994 Joint ISA and AAPO&S Meeting, Vancouver, Canada
Publication Date:
Dec 20 2024
