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带有小头症的下面部异位症与先天性腹膜 Hernia 之间的新兴关联

Katerina L Aris¹, Richard E Kirschner^2,3, Emily Hrach⁴

¹The Ohio State University College of Medicine, Columbus, OH, USA.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

|February 25, 2026

概括

带有小头症的下面部异位症 (MFDM) 是一种罕见的遗传综合征. 这项研究报告了一例与先天性隔膜 (CDH) 相关的MFDM新病例,这是以前未经记录的异常.

科学领域:

遗传学遗传学是一种遗传学.
发展生物学发展生物学
医学遗传学医学遗传学

背景情况:

带有小头症的口腔面部异位症 (Mandibulofacial dysostosis with microcephaly,MFDM) 是一种罕见的面综合征.
它是由 *EFTUD2* 基因中的致病变体引起的.
临床特征包括形面部特征,小头症,发育迟缓和各种先天性异常,记录了消化道问题,如食道缩和气管食道.

研究的目的:

报告一个新的MFDM病例.
描述MFDM与先天性隔膜 (CDH) 的关联.
为了突出MFDM的遗传基础,在EFTUD2*中*de novo*的致病变体出现.

主要方法:

一个晚期早产的女婴的病例报告,在产前诊断出多种先天性形.
产后遗传测试以确定引起的遗传变异.
临床和遗传分析以确认MFDM的诊断.

主要成果:

该患者出现了多种先天性形,包括与MFDM一致的特征.
鉴定出先天性隔膜 (CDH),代表了与MFDM之前未报告的关联.
基因检测证实了EFTUD2的异合体 * de novo * 致病变体,确定了MFDM的诊断.

结论:

这种情况扩大了与MFDM相关的已知先天性异常的范围.
在产前和产后评估中应考虑先天性隔膜 (CDH) 患者的MFDM.
*EFTUD2*中的致病变体被证实是MFDM的原因,强调了基因检测的重要性.

关键词:

头骨面部形态学头骨面部形态学头骨面部外科手术是什么遗传学遗传学遗传学是一个儿科儿科儿科儿科综合征综合征是指一个综合征.

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