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Journals / İstanbul Kuzey Klinikleri / 2016 / Cilt: 3 - Sayı: 2

Apert syndrome: A case report and review of the literature

Tuba Tulay KOCA
Pages
135–139
Publication Date
2022-10-18
DOI
—
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AI Summary & Key Takeaways

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

The multiple phenotypic signs of Apert syndrome make multidisciplinary team, including dentist, neurosurgeon, plastic surgeon, physiatrist, ophthalmologist, perinatalogist and geneticist, essential for successful management

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Apert syndrome is the rare acrocephalosyndactyly syndrome type 1, characterized by craniosynostosis, severe syndactyly of hands and feet, and dysmorphic facial features.
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Key Findings & Data:It demonstrates autosomal dominant inheritance assigned to mutations in the fibroblast growth factor receptor gene.
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Conclusion & Impact:The multiple phenotypic signs of Apert syndrome make multidisciplinary team, including dentist, neurosurgeon, plastic surgeon, physiatrist, ophthalmologist, perinatalogist and geneticist, essential for successful management
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Apert syndrome is the rare acrocephalosyndactyly syndrome type 1, characterized by craniosynostosis, severe syndactyly of hands and feet, and dysmorphic facial features. It demonstrates autosomal dominant inheritance assigned to mutations in the fibroblast growth factor receptor gene. Presently described is case of a 19-year-old female patient diagnosed on physical examination with Apert syndrome based on acrocephaly, prominent forehead, ocular hypertelorism, proptosis, short and broad nose, pseudoprognathism, dental crowding and ectopia, maxillar hypoplasia, low hairline, webbed neck, pectus excavatum, and severe, bilateral syndactyly of hands and feet. The multiple phenotypic signs of Apert syndrome make multidisciplinary team, including dentist, neurosurgeon, plastic surgeon, physiatrist, ophthalmologist, perinatalogist and geneticist, essential for successful management

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Cite This Article

KOCA, T. T. (2022). Apert syndrome: A case report and review of the literature. İstanbul Kuzey Klinikleri, Cilt: 3 - Sayı: 2, 135–139. https://ajindex.com/articles/551628

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