Case Report of Recurrent Popliteal Pterygium Syndrome

IF 0.1 Q4 OBSTETRICS & GYNECOLOGY

Journal of Fetal Medicine Pub Date : 2024-06-03 DOI:10.1055/s-0044-1787057

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

引用次数: 0

Abstract

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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复发性腘窝胬肉综合征病例报告

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。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Fetal Medicine OBSTETRICS & GYNECOLOGY-

自引率

50.00%

发文量

期刊介绍： Journal of Fetal Medicine is the official journal of the Society of Fetal Medicine affiliated with International Society of Ultrasound in Obstetrics & Gynecology. This is a peer-reviewed international journal featuring articles with special interest to fetal medicine specialists, geneticists and ulstrasonologists. The aim of the journal is to communicate the results of original research in the field of fetal medicine. It includes a variety of articles suitable for clinicians and scientific specialists concerned with diagnosis and therapy of fetal disorders. All articles on health promotion of the fetus are acceptable for publication. The major focus is on highlighting the work that has been carried out in India and other developing countries. It also includes articles written by experts from the West. Types of articles published: - Original research articles related to fetal care and basic research - Review articles - Consensus guidelines for diagnosis and treatment - Case reports - Images in Fetal Medicine - Brief communications