Bardet-biedl syndrome: Two cases and review of the literature Bardet-Biedl Sendromu: Iki olgu ve literatürün gözden geçirilmesi
Gulhane Medical Journal, cilt.55, sa.4, ss.321-324, 2013 (Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 55 Sayı: 4
- Basım Tarihi: 2013
- Doi Numarası: 10.5455/gulhane.8936
- Dergi Adı: Gulhane Medical Journal
- Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.321-324
- Anahtar Kelimeler: Bardot-biedl syndrome, Laryngeal web, Posterior urethral valve, Proteinuria
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Bardet-Biedl Syndrome (BBS) is an autosomal recessive disorder with cardinal findings like that obesity, rod-cone dystrophy, polydactily, renal anomalies and hypogonadism and assumes "ciliopathy" pathology today and also is one of the genetic obesity syndromes. We presented here two cases that one of them is 26 months old and the other is 16 years old. The first featured with laryngeal web and posterior urethral valve and the second with nephrotic range proteinuria.© Gülhane Askeri Tip Akademisi 2013.