Bardet-Biedl syndrome: a case report.

Department of Genetics, State Hospital, Erzurum, Turkey.

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by progressive retinal dystrophy, polydactyly, obesity, hypogonadism, mental retardation, and renal dysfunction. Other manifestations include diabetes mellitus, heart disease, hepatic fibrosis, neurological features, and multiple pigmented nevi. To date, twelve BBS genes have been cloned (BBS1-BBS12). Herein we discussed a patient with BBS who had multiple pigmented nevi.

PMID: 18319026 [PubMed - indexed for MEDLINE]