Bardet Biedl syndrome: a case report

Abstract

Bardet-Biedl syndrome is rare genetic disorder, characterized by gross physical abnormalities like postaxial polydactyly or syndactyly, obesity, visual disturbances, mental retardation, hypogonadism. Diagnosis based on a group of clinical features. Here I am reporting a case of 14 years old boy presenting with obesity, difficulty in vision and hypogonadism. Bardet-Biedl syndrome was diagnosed and appropriate counselling and symptomatic treatment was discussed with his parents.