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Journals / GORM:Gynecology Obstetrics & Reproductive Medicine / 2014 / Cilt: 20 - Sayı: 3

Meckel Gruber sendromu – vaka sunumu ve literatür derlemesi

Meckel Gruber syndrome- A case report and review of literature

SÜMEYRA NERGİZ AVCIOĞLU
Selda SEZER DEMİRCAN
SÜNDÜZ ÖZLEM ALTINKAYA
Mert KÜÇÜK
Hasan YÜKSEL
Pages
175–177
DOI
—
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AI Summary & Key Takeaways

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

Here a case of MG syndrome, diagnosed in early weeks of gestation was reported.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Meckel-Gruber syndrome (MGS) is a lethal autosomal recessive disorder.
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Key Findings & Data:The worldwide incidence of MGS varies from 1 in 13 250 to 1 in 140.000 live births.
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Conclusion & Impact:Here a case of MG syndrome, diagnosed in early weeks of gestation was reported.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Meckel-Gruber syndrome (MGS) is a lethal autosomal recessive disorder. MGS is thought to be caused by ciliary dysfunction. The worldwide incidence of MGS varies from 1 in 13 250 to 1 in 140.000 live births. MGS is characterized by three main symptoms: central nervous system (CNS) malformations, tetramelic postaxial polydactyly and cystic renal dysplasia with associated fibrocystic changes of the liver, pancreas and epididymis. Here a case of MG syndrome, diagnosed in early weeks of gestation was reported.

Özet

Meckel- Gruber sendromu (MGS) ölümcül bir otozomal resesif hastalıktır. Siliyer fonksiyon bozukluğundan kaynaklandığı düşünülmektedir. Dünya üzerindeki insidansı canlı doğumların 1/13.250 - 1/140.000’i arasında değişim göstermektedir. MGS’ nin klasik triadı, santral sinir sistemi malformasyonları, tetramelik postaksiel polidaktili ve renal kistik displazi ile karaciğer, pankreas ve epididimisteki fibrokistik değişimlerdir. Burada erken gebelik haftasında tanısı konmuş bir MGS vakası bildirilmiştir.

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Cite This Article

AVCIOĞLU, S. N., DEMİRCAN, S. S., ALTINKAYA, S. Ö., KÜÇÜK, M., YÜKSEL, H. (2014). Meckel Gruber sendromu – vaka sunumu ve literatür derlemesi. GORM:Gynecology Obstetrics & Reproductive Medicine, Cilt: 20 - Sayı: 3, 175–177. https://ajindex.com/articles/199779

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