Bardet-Biedl syndrome Bardet-Biedl sendromu
Goztepe Tip Dergisi, cilt.23, sa.1, ss.37-40, 2008 (Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 23 Sayı: 1
- Basım Tarihi: 2008
- Dergi Adı: Goztepe Tip Dergisi
- Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.37-40
- Anahtar Kelimeler: Bardet-Biedl syndrome
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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 (BBSl-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.