DOI: 10.36347/sjams.2018.v06i07.051

Pages: 2898-2901

Bardet-Biedl syndrome (BBS) is a rare ciliopathic autosomal recessive genetic disorder. It presents with varied clinical manifestations like retinitis pigmentosa, polydactyly, central obesity, mental retardation and renal dysfunction. Other rare manifestations include diabetes mellitus, heart disease, hepatic fibrosis and neurological manifestations. Most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life. We, here, have presented a 4-year-old girl with features of Bardet-Biedl syndrome.