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Journals / Gülhane Tıp Dergisi / 2013 / Cilt: 55 - Sayı: 4

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

Bardet-Biedl Sendromu : İki olgu ve literatürün gözden geçirilmesi

Cengiz ZEYBEK
Tarkan MUMCUOĞLU
Süleyman KALMAN
Faysal GÖK
DUYGU ÖVÜNÇ HACIHAMDİOĞLU
Erkan DEMİRKAYA
Pages
321–324
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

The first featured with laryngeal web and posterior urethral valve and the second with nephrotic range proteinuria.

📌 3 Key Takeaways

🎯
Objective & Hypothesis: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.
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Key Findings & Data:We presented here two cases that one of them is 26 months old and the other is 16 years old.
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Conclusion & Impact:The first featured with laryngeal web and posterior urethral valve and the second with nephrotic range proteinuria.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

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.

Özet

Bardet-Biedl sendromu (BBS), günümüzde “siliopati” patolojileri arasında sayılan, retinal distrofi, polidaktili, şişmanlık, hipogonadizm ve böbrek anomalileri kardinal bulguları ile karakterize, otozomal resesif kalıtılan, genetik şişmanlık sendromlarından birisidir. Biz burada literatür taraması ile birlikte biri 26 aylık diğeri 16 yaşında iki olgumuzu yayınlıyoruz. İlk olgumuzun özelliği laringeal web ve posterior üretral valv ile birlikte olması diğer olgumuzun özelliği ise nefrotik düzeyde proteinüri gelişmesiydi.

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Cite This Article

ZEYBEK, C., MUMCUOĞLU, T., KALMAN, S., GÖK, F., HACIHAMDİOĞLU, D. Ö., DEMİRKAYA, E. (2013). Bardet-Biedl Syndrome : Two cases and review of the literature. Gülhane Tıp Dergisi, Cilt: 55 - Sayı: 4, 321–324. https://ajindex.com/articles/219672

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References (14)

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