title: Bardet biedel syndrome: a very rare entity in India.
abstract: 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.
authors.affiliation: Additional Professor, Medical College Baroda and Sayaji General Hospital , Vadodara, India .
authors.forename: Rupal V
authors.initials: RV
authors.lastname: Dosi
authors.forename: Nikita R
authors.initials: NR
authors.lastname: Bhatt
authors.forename: Annirudh P
authors.initials: AP
authors.lastname: Ambaliya
authors.forename: Nitin N
authors.initials: NN
authors.lastname: Sonune
authors.forename: Rushad D
authors.initials: RD
authors.lastname: Patell
keywords: Bardet Biedel Syndrome; Obesity; Retinitis pigmentosa