Author/Authors
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
Title Of Article
Bardet-Biedl Syndrome : Two cases and review of the literature
شماره ركورد
20060
Abstract
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.
From Page
321
NaturalLanguageKeyword
Bardot , Biedl syndrome , laryngeal web , posterior urethral valve , proteinuria
JournalTitle
Gulhane Medical Journal
To Page
324
JournalTitle
Gulhane Medical Journal
Link To Document