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Journals / Medical Network Klinik Bilimler ve Doktor / 2005 / Cilt: 11 - Sayı: 6

Ellis-van Creveld syndrome: Report of a case diagnosed by prenatal ultrasonography

Ellis-van Creveld sendromu: Prenatal sonografi ile tanı konulan bir olgu

Sadettin GÜNGÖR
İskender BAŞER
SEYİT TEMEL CEYHAN
Cihangir Mutlu ERCAN
Pages
671–674
DOI
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AI Summary & Key Takeaways

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

Here, we report the clinical and radiological findings in a 20 week old effected fetus.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Ellis van Creveld syndrome which referred as chondro-ectodermal dysplasia is an autosomal recessive condition, usually comprises with bilateral postaxial polydactyly, ectodermal dysplasia, shortness of limbs, and congenital heart disease.
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Key Findings & Data:There are many reports in medical literature describing effected newborns and even older children but there are rare reports describing the syndrome's prenatal diagnosis.
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Conclusion & Impact:Here, we report the clinical and radiological findings in a 20 week old effected fetus.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Ekstremiteler · Ellis-Van Creveld sendromu · Ultrasonografi

Abstract

Ellis van Creveld syndrome which referred as chondro-ectodermal dysplasia is an autosomal recessive condition, usually comprises with bilateral postaxial polydactyly, ectodermal dysplasia, shortness of limbs, and congenital heart disease. There are many reports in medical literature describing effected newborns and even older children but there are rare reports describing the syndrome's prenatal diagnosis. Here, we report the clinical and radiological findings in a 20 week old effected fetus.

Özet

Ellis van Creveld sendromu "Kondrodermal displazi" olarak da tanımlanan, otozomal resessif geçişli; dar toraks, kısa ekstremiteler, bilateral postaksial polidaktili, ektodermal displazi, ekstermite kısalığı ve konjenital kalp hastalığı ile karakterize bir sendromdur. Bu sendromdan etkilenmiş bireyleri tanımlayan literatürde birçok yayın bulunmasına karşın prenatal tanısı ile ilgili nadir vaka bildirilmiştir. Bu olgu sunumunda; 20. gebelik haftasında sendromdan etkilenmiş olan fetus, klinik ve radyolojik bulguları ile sunulmaktadır.

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Cite This Article

GÜNGÖR, S., BAŞER, İ., CEYHAN, S. T., ERCAN, C. M. (2005). Ellis-van Creveld syndrome: Report of a case diagnosed by prenatal ultrasonography. Medical Network Klinik Bilimler ve Doktor, Cilt: 11 - Sayı: 6, 671–674. https://ajindex.com/articles/278481

References (9)

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