复发性腘窝胬肉综合征病例报告

Pub Date : 2024-06-03 DOI:10.1055/s-0044-1787057

Komal Rangholiya, Pruthviben K. Ponkiya, P. Desai, B. Chauhan, S. Patel

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引用次数: 0

摘要

一名怀孕 23 周的孕妇曾有过一个面部和四肢畸形的孩子，在接受胎儿超声波检查时发现当前胎儿也有类似的畸形。基因检测证实了新的IRF6基因突变，与腘窝翼状胬肉综合征1型一致。该病例强调了复发的可能性以及基因检测在产前诊断中的作用。

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Case Report of Recurrent Popliteal Pterygium Syndrome

A 23 week pregnant woman with a history of a child with facial and limb malformations underwent a fetal ultrasound revealing similar abnormalities in the current fetus. Genetic testing confirmed a new IRF6 gene mutation consistent with popliteal pterygium syndrome type 1. This case highlights the potential for recurrence and the role of genetic testing in prenatal diagnosis.

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