Bardet-Biedl syndrome in two sisters A rare incidence

摘要

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.Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy with multi organ involvement. The diagnosis is mainly clinical and currently the genes responsible for cilia biogenesis and function are being investigated [1]. In this article, we present two sisters with this rare genetic condition.