Bardet- Biedl syndrome – A rare case

Authors : Madhusmita Behera, Madhusmita Behera, Samir Patra, Samir Patra

DOI : 10.18231/2395-1451.2018.0124

Volume : 4

Issue : 4

Year : 0

Page No : 554-555

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with wide spectrum of clinical features. BBs is distinguished from the much rarer Laurence-moon syndrome, in which retinal pigmentary degeneration, mental retardation, and hypogonadism occur in association with progressive spastic paraparesis and distal muscle weakness, but without polydactyly. Most common feature of BBS is retinal dystrophy. The visual prognosis for children with Bardet-Biedl syndrome is poor.

Keywords: Mental retardation, Pigmentary retinopathy, Polydactyly.

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