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Medeniyet Med J. 2008; 23(1): 37-40
2Erzurum Numune Hospital, Anatomy Expert, Erzurum
2Erzurum Numune Hastanesi, Anatomi Uzmanı, Erzurum
Bardet-Biedl syndrome
Ali Karaman1, Cengiz Öztürk21Erzurum Numune Hospital, Genetics Unit, Erzurum2Erzurum Numune Hospital, Anatomy Expert, Erzurum
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterised by obesity, retinal dystrophy, polydactyly, renal malformations, mental retardation, and hypogonadism. To date, 12 BBS genes have been cloned (BBS1-BBS12). Eighteen-year-old girl with BBS was admitted to genetics department with complaint of amenore. Initial evaluation revealed polydactily, brachydactyly, and obesity. Detailed investigation revealed classical finding of retinopathy, mental retardation, and hypogonadism. Here in we discussed a patient with BBS who had primer amenore.
Keywords: Bardet-Biedl syndrome
Bardet-Biedl sendromu
Ali Karaman1, Cengiz Öztürk21Erzurum Numune Hastanesi, Genetik Ünitesi, Erzurum2Erzurum Numune Hastanesi, Anatomi Uzmanı, Erzurum
Anahtar Kelimeler: Bardet-Biedl sendromu
Corresponding Author: Ali Karaman, Türkiye
Manuscript Language: Turkish
Manuscript Language: Turkish