DOI: 10.36347/sjmcr.2018.v06i04.013

Pages: 264-266

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder belonging to the family of ciliopathies and characterized by heterogeneous clinical manifestations including rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, learning difficulties, developmental delay, speech deficit, brachydactylic or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc. Here, we present the case report of BBS, reported in two siblings, which is very rare.