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Journals / Bakırköy Tıp Dergisi / 2013 / Cilt: 9 - Sayı: 2

Apert syndrome: Case report

Apert sendromu: Olgu sunumu

Ali KARAMAN
HASAN KAHVECİ
Pages
81–84
DOI
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AI Summary & Key Takeaways

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

He was diagnosed as Apert syndrome with the typical features of coronal synostosis, hyperteleorism, symmetric syndactyly of hands and feet and corpus callosum hypoplasia.

📌 3 Key Takeaways

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Objective & Hypothesis:Apert syndrome is a rare autosomal dominant genetic disorder characterized by irregular craniosynostosis, symmetric syndactylia of hands and feet, mid-line hypoplasia, and coronal synostosis, hypertelorism, anomalies of central nervous system, heart and kidneys.
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Key Findings & Data:In this paper, we reported a 10 day-old new born who was hospitalized because of respiratory distress.
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Conclusion & Impact:He was diagnosed as Apert syndrome with the typical features of coronal synostosis, hyperteleorism, symmetric syndactyly of hands and feet and corpus callosum hypoplasia.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Apert syndrome is a rare autosomal dominant genetic disorder characterized by irregular craniosynostosis, symmetric syndactylia of hands and feet, mid-line hypoplasia, and coronal synostosis, hypertelorism, anomalies of central nervous system, heart and kidneys. In this paper, we reported a 10 day-old new born who was hospitalized because of respiratory distress. He was diagnosed as Apert syndrome with the typical features of coronal synostosis, hyperteleorism, symmetric syndactyly of hands and feet and corpus callosum hypoplasia.

Özet

Apert sendromu düzensiz kraniosinostozis, el-ayaklarda simetrik sindaktili ve orta hat hipoplazisi ile koronal sinositozis, hiperteleorizm, santral sinir sistemi, kalp ve böbrek anomalileri ile karakterize otozomal dominant geçişli nadir bir bozukluktur. Bu yazıda solunum sıkıntısına bağlı hastanemize yatırılan 10 günlük bir yenidoğanı sunduk. Vakaya hastalığın tipik bulgularından; kraniyal sinositoz, hipertelorizm, el ve ayaklarda simetrik sindaktili ve korpus kallozum hipoplazisi olması nedeniyle Apert sendromu tanısı konulmuştur.

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Cite This Article

KARAMAN, A., KAHVECİ, H. (2013). Apert syndrome: Case report. Bakırköy Tıp Dergisi, Cilt: 9 - Sayı: 2, 81–84. https://ajindex.com/articles/129104

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