Bardet-Biedl syndrome in two sisters: A rare incidence

Article type: Research Article

Authors: Varma, Chaitanya^; | Bhat, Ramesh Y. | Bhatt, Sonia

Affiliations: Department of Pediatrics, Kasturba Medical College, Manipal, Karnataka, India

Note: [] Corresponding author: Chaitanya Varma, Department of Pediatrics, Kasturba Medical College, Manipal, Karnataka, India. Tel.: +91 8184948501; Fax: +91 0820 2571927; E-mail: [email protected].

Abstract: Bardet-Biedl syndrome is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, polydactyly, mental retardation and hypogonadism. We present two sisters with this rare genetic condition.

Keywords: Bardet-Biedl, hypogonadism, polydactyly, retinal dystrophy, sibling

DOI: 10.3233/PGE-13048

Journal: Journal of Pediatric Genetics, vol. 2, no. 1, pp. 49-52, 2013