A case report: Bardet-Biedle syndrome


Article PDF :

Veiw Full Text PDF

Article type :

Case Report

Author :

Girjesh Kain, Megha Srivastava, Mamta Kumari

Volume :

3

Issue :

4

Abstract :

Bardet-Biedle syndrome is an autosomal recessive disorder named after George Bardet & Arthur Biedle. Bardet-Biedle syndrome is characterized by rods-cones dystrophy, truncal obesity, postaxial polyductyly, cognitive impairment, male hypogonadism, and renal abnormalities. The purpose of this article is to provide detailed review of Bardet-Biedle syndrome.

Keyword :

­ Bardet-Biedle Syndrome, Retinitis Pigmentosa, Rods-cones dystrophy.