小脑皮质发育不良的产前诊断：病例报告

The Cerebellum Pub Date : 2024-04-12 DOI:10.1007/s12311-024-01688-9

Yan Ding, Zhixuan Chen, Huaxuan Wen, Dandan Luo, Ying Yuan, Shaojun Zhang, Xiaohong Zhong, Shengli Li

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引用次数: 0

摘要

这是一项对12个小脑皮质发育不良（CCDs）胎儿的研究，这些病例的特点是小脑裂隙紊乱。一直以来，CCD 的诊断主要通过产后成像进行。本研究的独特之处在于利用产前超声波对 CCD 进行产前诊断，并发现 AXIN1 和 FOXC1 基因突变可能与 CCD 有关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Prenatal Diagnosis of Cerebellar Cortical Dysplasia: Case Report

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Prenatal Diagnosis of Cerebellar Cortical Dysplasia: Case Report

This was a study of 12 cerebellar cortical dysplasias (CCDs) fetuses, these cases were characterized by a disorder of cerebellar fissures. Historically, CCD diagnosis was primarily performed using postnatal imaging. Unique to this study was the case series of CCD for prenatal diagnosis using prenatal ultrasound, as well as we found that AXIN1 and FOXC1 mutations may be related to CCD.

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The Cerebellum

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