Zeybek, Cengiz Gülhane Askeri Tıp Fakültesi - Pediatrik Nefroloji BD, Turkey , Mumcuoglu, Tarkan Gülhane Askeri Tıp Fakültesi - Göz Hast AD, Turkey , Kalman, Süleyman Gülhane Askeri Tıp Fakültesi - Çocuk Nefrolojisi Bilim Dalı, Turkey , Gök, Faysal Gülhane Askeri Tıp Fakültesi - Pediatrik Nefroloji BD, Turkey , Hacıhamdioglu, Duygu Övünç Gülhane Askeri Tıp Fakültesi - Pediatrik Nefroloji BD, Turkey , Demirkaya, Erkan Gülhane Askeri Tıp Fakültesi - Pediatrik Nefroloji BD, Turkey

Bardet-Biedl Syndrome : Two cases and review of the literature

20060

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.

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Bardot , Biedl syndrome , laryngeal web , posterior urethral valve , proteinuria

Gulhane Medical Journal

324