Journals / JAREM / 2016 / Cilt: 6 - Sayı: 3

Association between Apert Syndrome and Atrial Septal Defect

Apert Sendromu ve Atriyal Septal Defekt Birlikteliği

Journal
JAREM
Pages
200–202
DOI
—
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AI Summary & Key Takeaways

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

In this study, an atrial septal defect cases of Apert syndrome, concomitant potential for congenital heart defects, in order to emphasize further investigation, we were willing to offer

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Apert syndrome, craniosynostosis, mid-face hypoplasia, symmetric syndactyly of the hands and feet, and varying degrees of mental retardation, and is characterized by congenital heart defects.
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Key Findings & Data:Although the mode of inheritance is autosomal dominant, it creates new mutations in the majority of cases.
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Conclusion & Impact:In this study, an atrial septal defect cases of Apert syndrome, concomitant potential for congenital heart defects, in order to emphasize further investigation, we were willing to offer
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Apert syndrome, craniosynostosis, mid-face hypoplasia, symmetric syndactyly of the hands and feet, and varying degrees of mental retardation, and is characterized by congenital heart defects. Although the mode of inheritance is autosomal dominant, it creates new mutations in the majority of cases. In this study, an atrial septal defect cases of Apert syndrome, concomitant potential for congenital heart defects, in order to emphasize further investigation, we were willing to offer

Özet

Apert sendromu kraniyosinostoz, yüzün orta kısmında hipoplazi, el ve ayaklarda simetrik sindaktili ve değişen derecelerde mental retardasyon ve konjenital kalp defektleri ile karakterize nadir bir bozukluktur. Kalıtım şekli otozomal dominant olmakla birlikte olguların çoğunu yeni mutasyonlar oluşturur. Bu yazıda atriyal septal defektli bir Apert sendromu olgusunu, eşlik eden olası doğumsal kalp defektleri açısından ayrıntılı incelemeyi vurgulamak amacıyla sunmak istedik

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Cite This Article

ÇAVDAROĞLU, P. D., KÖSECİK, M., KUMBASAR, S., SALMAN, S., ŞIK, B. A., ERDEM, B., TEKİN, B. (2016). Association between Apert Syndrome and Atrial Septal Defect. JAREM, Cilt: 6 - Sayı: 3, 200–202. https://ajindex.com/articles/202516

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References (3)

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