Case Series of Prenatally Diagnosed Cri du Chat Syndrome With Associated Magnetic Resonance Imaging Findings

IF 2.1 3区医学 Q2 CLINICAL NEUROLOGY

Pediatric neurology Pub Date : 2025-05-15 DOI:10.1016/j.pediatrneurol.2025.05.014

Renee Wright MS, LCGC , Natalie Burrill MS, LCGC , Haley Crane MS, LCGC , Nahla Khalek MD, MPH, MSEd , Juliana Gebb MD , Ashley M. Bach MD, MPH , Matthew T. Whitehead MD , Deborah Zarnow MD , Edward Oliver MD, PhD , Sonika Agarwal M.B.B.S, MD , Julie S. Moldenhauer MD

引用次数: 0

Abstract

Background

Although the postnatal presentation of cri du chat syndrome (CdCS) is well known, few cases have reported the fetal phenotype of this syndrome.

Methods

We aim to share novel magnetic resonance imaging (MRI) findings in prenatally diagnosed CdCS.

Results

Here we describe three cases of prenatally diagnosed CdCS, with pontine and cerebellar hypoplasia, identified by ultrasound and confirmed by fetal MRI.

Conclusions

These cases highlight an expansion of the CdCS phenotype and the importance of fetal MRI and prenatal genetic testing in assisting with prenatal diagnosis of CdCS.

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产前诊断为Cri du Chat综合征的病例系列及其相关磁共振成像结果

背景：虽然cri du chat综合征（CdCS）的产后表现是众所周知的，但很少有病例报道该综合征的胎儿表型。方法我们旨在分享产前诊断的CdCS的磁共振成像（MRI）新发现。结果我们报告了3例产前诊断的CdCS，伴有脑桥和小脑发育不全，经超声诊断并经胎儿MRI证实。结论这些病例突出了CdCS表型的扩大以及胎儿MRI和产前基因检测在协助CdCS产前诊断中的重要性。

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

Pediatric neurology 医学-临床神经学

CiteScore

4.80

自引率

2.60%

发文量

176

审稿时长

78 days

期刊介绍： Pediatric Neurology publishes timely peer-reviewed clinical and research articles covering all aspects of the developing nervous system. Pediatric Neurology features up-to-the-minute publication of the latest advances in the diagnosis, management, and treatment of pediatric neurologic disorders. The journal''s editor, E. Steve Roach, in conjunction with the team of Associate Editors, heads an internationally recognized editorial board, ensuring the most authoritative and extensive coverage of the field. Among the topics covered are: epilepsy, mitochondrial diseases, congenital malformations, chromosomopathies, peripheral neuropathies, perinatal and childhood stroke, cerebral palsy, as well as other diseases affecting the developing nervous system.