
Bardet Biedel Syndrome: A
Very Rare Entity in India
2010-2011
Correspondence
Dr. Rushad Patell,
32 Alka Society, Akota, Vadodara-390020, India
Email: rushadpatell@gmail.com
Bardet Biedel Syndrome (BBS) is a rare autosomal recessive disease which is characterized by obesity, retinitis pigmentosa, polydactyly, neuro-developmental retardation and renal defects amongst others. It is a genetically heterogeneous ciliopathic disorder with inter and intra familial variations. Very few cases have been reported from India. We are reporting here a case of an adolescent girl who was diagnosed at the age of 16, with additional features of insulin resistance and non-alcoholic fatty liver disease. A review of recent literature and a short discussion on the care and management of this uncommon condition follow.