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Journals / Türkiye Çocuk Hastalıkları Dergisi / 2026 / Cilt: 7 Sayı: 2

Apert Syndrome

Apert Sendromu

Suzan Gündüz(Turgut Özal Üniversitesi,)
Nihal Demirel(Ankara Dr. Sami Ulus Kadın Doğum, Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi)
Ahmet Yağmur Baş(Ankara Dr. Sami Ulus Kadın Doğum, Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi)
Nurullah Okumuş(Ankara Dr. Sami Ulus Kadın Doğum, Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi)
Ayşegül Zenciroğlu(Ankara Dr. Sami Ulus Kadın Doğum, Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi)
Pages
94–95
Publication Date
2013-08-01
DOI
—
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AI Summary & Key Takeaways

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

Here, we present a case of Apert’s syndrome with craniosynostosis, severe syndactyly of the hands and feet, and bilateral choanal stenosis

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Apert syndrome is characterized by craniosynostosis, hypertelorism, severe syndactyly of the hands and feet, and cardiac and renal abnormalities and develops as a result of a mutation in the fibroblast growth factor receptor genes (FGFR2) located on chromosome 10 (10q26).
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Key Findings & Data:Apert syndrome is characterized by craniosynostosis, hypertelorism, severe syndactyly of the hands and feet, and cardiac and renal abnormalities and develops as a result of a mutation in the fibroblast growth factor receptor genes (FGFR2) located on chromosome 10 (10q26).
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Conclusion & Impact:Here, we present a case of Apert’s syndrome with craniosynostosis, severe syndactyly of the hands and feet, and bilateral choanal stenosis
🔬Design:Makale
📍Scope:Comprehensive Sample
⚙️Variables:Apert sendromu · Koanal hipolazi · Kranyosinoztozis

Abstract

Apert syndrome is characterized by craniosynostosis, hypertelorism, severe syndactyly of the hands and feet, and cardiac and renal abnormalities and develops as a result of a mutation in the fibroblast growth factor receptor genes (FGFR2) located on chromosome 10 (10q26). Here, we present a case of Apert’s syndrome with craniosynostosis, severe syndactyly of the hands and feet, and bilateral choanal stenosis

Özet

Apert sendromu kraniyosinostoz, hipertelorizm, el ve ayaklarda ağır sindaktili, kalp ve böbrek anomalileri ile karakterize bir hastalık olup 10. kromozomda yer alan (10q26) fibroblast büyüme faktörü reseptör (FGFR2) geninin mutasyonu sonucu gelişir. Bu yazıda, kraniyosinositoz, el ve ayaklarda ağır sindaktili, bilateral koanal stenozu olan bir Apert sendromu olgusunu sunduk.

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Cite This Article

Gündüz, S., Demirel, N., Baş, A. Y., Okumuş, N., Zenciroğlu, A. (2013). Apert Syndrome. Türkiye Çocuk Hastalıkları Dergisi, Cilt: 7 Sayı: 2, 94–95. https://ajindex.com/articles/1435939

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References (7)

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