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AI Summary & Key Takeaways
AI Insight⚡ TL;DR(Too Long; Didn't Read)
In this article, a sporadic case having typical features of Apert Syndrome is represented.
📌 3 Key Takeaways
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Objective & Hypothesis:Apert Syndrome is an autosomal dominant disorder characterized by craniosynostosis, midfacial hypoplasia, and syndactyly.
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Key Findings & Data:However, the vast majority of cases are represented as a fresh mutation.
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Conclusion & Impact:In this article, a sporadic case having typical features of Apert Syndrome is represented.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
Abstract
Apert Syndrome is an autosomal dominant disorder characterized by craniosynostosis, midfacial hypoplasia, and syndactyly. However, the vast majority of cases are represented as a fresh mutation. In this article, a sporadic case having typical features of Apert Syndrome is represented.
Özet
Apert Sendromu kraniosinostozis, midfasiyal hipoplazi ve sindaktili ile karakterize otozomal dominant bir sendromdur. Bu kalıtım şekline karsın olguların büyük çoğunluğu yeni mutasyonlar olarak ortaya çıkmakta, aile anamnezi vermemektedir. Bu yazıda da nadir görülen, karakteristik Apert Sendromu bulguları taşıyan ve herediter geçiş göstermeyen bir olgu sunulmuştur.
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Cite This Article
DİRİK, E., ÜNSAL, E. (1995). Bir apert sendromu olgusu (olgu sunumu). Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi, Cilt: 9 - Sayı: 2, 16–19. https://ajindex.com/articles/222446