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Journals / Zeynep Kamil Tıp Bülteni / 2004 / Cilt: 35 - Sayı: 4

Cerebro-oculo-facio-scletal syndrome: A case report

Bir olgu sunumu: Cerebro-oculo-facio-scletal sendrom

Gülşah GÜVEN
ENVER ATAY
Abdülkadir BOZAYKUT
Serap CERAN
Pages
215–216
DOI
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AI Summary & Key Takeaways

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

We aimed to discuss this rare disorder under the light of literature.

📌 3 Key Takeaways

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Objective & Hypothesis:Cerebro-oculo-facio-skeletal(COFS) Syndrome is a genetic syndrome characterized by neurogenic arthrogryposis, microcephaly and microphtalmia.
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Key Findings & Data:Inheritance is autosomal recessive.
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Conclusion & Impact:We aimed to discuss this rare disorder under the light of literature.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Mikroftalmus · Sendrom · Süt çocuğu

Abstract

Cerebro-oculo-facio-skeletal(COFS) Syndrome is a genetic syndrome characterized by neurogenic arthrogryposis, microcephaly and microphtalmia. Inheritance is autosomal recessive. Here we report a newborn who has physical anomalies associated with COFS. We aimed to discuss this rare disorder under the light of literature.

Özet

Cerebro-Oculo-Fasio-Skeletal Sendrom nörojenik. artrogripozis,mikrosefalı ve mikroftalmi ile karakterize olan genetik bir sendromdur. Kalıtım şekli otozomal resesiftir. Bu yazıda bu sendrom ile uyumlu fizik anomalileri olan yenidoğan sunulmuştur. Bu çok nadir görülen hastalığı literatür ışığı altında tartışmayı amaçladık.

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Cite This Article

GÜVEN, G., ATAY, E., BOZAYKUT, A., CERAN, S. (2004). Cerebro-oculo-facio-scletal syndrome: A case report. Zeynep Kamil Tıp Bülteni, Cilt: 35 - Sayı: 4, 215–216. https://ajindex.com/articles/335793

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References (1)

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