Bardet-Biedl syndrome: a case report.
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.
Karaman
Ali
A
Department of Genetics, State Hospital, Erzurum, Turkey.
D020788:Bardet-Biedl Syndrome / Q000175:diagnosis*; D002648:Child; D005153:Facial Neoplasms / Q000235:genetics; D005187:Fallopian Tubes / Q000002:abnormalities; D005260:Female; D006801:Humans; D009508:Nevus, Pigmented / Q000235:genetics; D010048:Ovarian Cysts / Q000235:genetics; D014599:Uterus / Q000002:abnormalities