Bardet-Biedl Sendromu: Iki olgu ve literatürün gözden geçirilmesi

Cengiz Zeybek; Tarkan Mumcuoǧlu; Süleyman Kalman; Faysal Gök; Duygu Övünç Hacihamdioǧlu; Erkan Demirkaya

doi:10.5455/gulhane.8936

Bardet-Biedl Sendromu: Iki olgu ve literatürün gözden geçirilmesi

Translated title of the contribution: Bardet-biedl syndrome: Two cases and review of the literature

Cengiz Zeybek, Tarkan Mumcuoǧlu, Süleyman Kalman, Faysal Gök, Duygu Övünç Hacihamdioǧlu, Erkan Demirkaya

Research output: Contribution to journal › Article › peer-review

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.

Translated title of the contribution	Bardet-biedl syndrome: Two cases and review of the literature
Original language	Turkish
Pages (from-to)	321-324
Number of pages	4
Journal	Gulhane Medical Journal
Volume	55
Issue number	4
DOIs	https://doi.org/10.5455/gulhane.8936
Publication status	Published - 2013
Externally published	Yes

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10.5455/gulhane.8936

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title = "Bardet-Biedl Sendromu: Iki olgu ve literat{\"u}r{\"u}n g{\"o}zden ge{\c c}irilmesi",

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.",

keywords = "Bardot-biedl syndrome, Laryngeal web, Posterior urethral valve, Proteinuria",

author = "Cengiz Zeybek and Tarkan Mumcuoǧlu and S{\"u}leyman Kalman and Faysal G{\"o}k and Hacihamdioǧlu, {Duygu {\"O}v{\"u}n{\c c}} and Erkan Demirkaya",

year = "2013",

doi = "10.5455/gulhane.8936",

language = "T{\"u}rk{\c c}e",

volume = "55",

pages = "321--324",

journal = "Gulhane Medical Journal",

issn = "1302-0471",

publisher = "Gulhane Medical School, University of Health Sciences",

number = "4",

}

TY - JOUR

T1 - Bardet-Biedl Sendromu

T2 - Iki olgu ve literatürün gözden geçirilmesi

AU - Zeybek, Cengiz

AU - Mumcuoǧlu, Tarkan

AU - Kalman, Süleyman

AU - Gök, Faysal

AU - Hacihamdioǧlu, Duygu Övünç

AU - Demirkaya, Erkan

PY - 2013

Y1 - 2013

N2 - 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.

AB - 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.

KW - Bardot-biedl syndrome

KW - Laryngeal web

KW - Posterior urethral valve

KW - Proteinuria

UR - http://www.scopus.com/inward/record.url?scp=84896276896&partnerID=8YFLogxK

U2 - 10.5455/gulhane.8936

DO - 10.5455/gulhane.8936

M3 - Makale

AN - SCOPUS:84896276896

SN - 1302-0471

VL - 55

SP - 321

EP - 324

JO - Gulhane Medical Journal

JF - Gulhane Medical Journal

IS - 4

ER -

Bardet-Biedl Sendromu: Iki olgu ve literatürün gözden geçirilmesi

Abstract

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