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

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 o...

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Bibliographic Details
Published in:Gülhane Tip Dergisi 2013-12, Vol.55 (4), p.321
Main Authors: Zeybek, Cengiz, Mumcuoglu, Tarkan, Kalman, Suleyman, Gok, Faysal, Hacihamdioglu, Duygu, Demirkaya, Erkan
Format: Article
Language:eng ; tur
Subjects:
Genetic disorders
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Summary: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.
ISSN:1302-0471
2146-8052
DOI:10.5455/gulhane.8936