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Journals / İnönü Üniversitesi Tıp Fakültesi Dergisi / 2003 / Cilt: 10 - Sayı: 1

Cornelia de Lange syndrome: Report of four cases

Cornelia de Lange sendromu: Dört vakanın sunumu

Cengiz YAKINCI
N. Onur KUTLU
Abdülkadir GÜL
Hande GÜLCAN
Pages
47–50
Publication Date
2022-10-17
DOI
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AI Summary & Key Takeaways

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

This syndrome should be considered in the differential diagnosis of failure to thrive and mental retardation, typical features of the presented cases are discussed and the literature is reviewed.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Cornelia de Lange syndrome is a rarely seen syndrome characterized by failure to thrive, mental retardation, typical facial appearance including synophris, thin upper lip turned sidedown and micromelia.
📊
Key Findings & Data:Cornelia de Lange syndrome is a rarely seen syndrome characterized by failure to thrive, mental retardation, typical facial appearance including synophris, thin upper lip turned sidedown and micromelia.
💡
Conclusion & Impact:This syndrome should be considered in the differential diagnosis of failure to thrive and mental retardation, typical features of the presented cases are discussed and the literature is reviewed.
🔬Design:Review & Systematic Survey
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Cornelia de Lange syndrome is a rarely seen syndrome characterized by failure to thrive, mental retardation, typical facial appearance including synophris, thin upper lip turned sidedown and micromelia. This syndrome should be considered in the differential diagnosis of failure to thrive and mental retardation, typical features of the presented cases are discussed and the literature is reviewed.

Özet

Cornelia de Lange (CDL) sendromu nadir görülen, büyüme geriliği, mental retardasyon, tipik yüz görünümü, orta hatta birleşen kalın kaşlar (synophris), dar ince aşağı dönük üst dudak, mikromeli ile karakterize bir sendromdur. Etiyolojisi tam olarak bilinmemektedir. Büyüme geriliği ve mental retardasyon ayırıcı tanısında; hatırda bulundurulması gereken bu sendromun özelliklerini gösteren dört vaka sunularak tanı koydurucu tipik özelliklerini ve literatür bilgilerini gözden geçirmeyi uygun bulduk.

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Cite This Article

YAKINCI, C., KUTLU, N. O., GÜL, A., GÜLCAN, H. (2022). Cornelia de Lange syndrome: Report of four cases. İnönü Üniversitesi Tıp Fakültesi Dergisi, Cilt: 10 - Sayı: 1, 47–50. https://ajindex.com/articles/548892

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