A CASE OF BARDET BIEDEL SYNDROME

BardetBiedl syndrome is a Ciliopathic human genetic disorder with variable expressivityand a wide range of clinical variability observed both within and between families.The main clinicalfeatures are Rod-cone dystrophy ( atypical retinitis pigmentosa) , Polydactyly, Obesity, Mentalretardation, Hypogonadism in males, complex urogenital malformations in females, Renal anomaliesand other secondary features. The syndrome is familial and is transmitted as an autosomal recessivetrait. we like to report a case of Bardet Biedel syndrome because of its rarity in INDIA as only lessthan 15 cases have been reported till now.