Bardet-Biedl Syndrome: Report of a Classical Case from North India

Bardet-Biedl syndrome (BBS) is a genetic disorder affecting cilia and its functions and manifests floridly in late childhood as a multisystem disorder with the classical triad being polydactyly, atypical retinal dystrophy, and central obesity. So far, very few case reports have been reported from India and even fewer from North India. We are reporting a classic case of a 14-year-old boy presenting to the medicine outpatient department with features of lower respiratory tract infection, who, on work-up, was diagnosed as a case of BBS on clinical grounds. He underwent conservative treatment and, over the next 7 days of treatment with parenteral antibiotics and fluids, resumed in the state of normalcy. Obese children or adolescents with polydactyly must raise a suspicion in the minds of a physician and must warrant further investigations, so as to prognosticate the guardians well before complications set in.