Open AccessBardet-Biedl syndrome in two sisters: A rare incidence
Author(s) -
Chaitanya Varma,
Ramesh Y Bhat,
Sonia Bhatt
Publication year - 2015
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.3233/pge-13048
Subject(s) - bardet–biedl syndrome , incidence (geometry) , pediatrics , medicine , genetics , physics , biology , phenotype , gene , optics
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.