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Case Reports
. 2024 Oct;23(5):1942-1949.
doi: 10.1007/s12311-024-01688-9. Epub 2024 Apr 12.

Prenatal Diagnosis of Cerebellar Cortical Dysplasia: Case Report

Yan Ding #  1 , Zhixuan Chen #  1 , Huaxuan Wen  1 , Dandan Luo  1 , Ying Yuan  1 , Shaojun Zhang  2 , Xiaohong Zhong  3 , Shengli Li  4
Affiliations
Case Reports

Prenatal Diagnosis of Cerebellar Cortical Dysplasia: Case Report

Yan Ding et al. Cerebellum. 2024 Oct.

Abstract

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.

Keywords: Cerebellar cortex; Cerebellar cortical dysplasia; Cerebellar fissure; Prenatal diagnosis.

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