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

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

Araştırma sonucu: Dergi katkısı › Makale › bilirkişi

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.

Tercüme edilen katkı başlığı	Bardet-biedl syndrome: Two cases and review of the literature
Orijinal dil	Türkçe
Sayfa (başlangıç-bitiş)	321-324
Sayfa sayısı	4
Dergi	Gulhane Medical Journal
Hacim	55
Basın numarası	4
DOI'lar	https://doi.org/10.5455/gulhane.8936
Yayın durumu	Yayınlanan - 2013
Harici olarak yayınlandı	Evet

Keywords

Bardot-biedl syndrome
Laryngeal web
Posterior urethral valve
Proteinuria

BM SKH

Bu sonuç, aşağıdaki Sürdürülebilir Kalkınma Hedefine/Hedeflerine katkıda bulunur

Belgeye Erişim

10.5455/gulhane.8936

Diger dosyalar ve linkler

Link to publication in Scopus

Bundan alıntı yap

@article{3269b04c302046ba9740ed41ba5e9bb7,

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

Özet

Keywords

BM SKH

Belgeye Erişim

Diger dosyalar ve linkler

Parmak izi

Bundan alıntı yap