Bardet-Biedl syndrome in two sisters: A rare incidence

J Pediatr Genet. 2013 Mar;2(1):49-51. doi: 10.3233/PGE-13048.

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.

Publication types

  • Case Reports