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超声诊断9三体胎儿中与多囊性发育不良性肾病相关的中枢神经系统异常（脉络丛双叶、脑室扩大、Dandy-Walker畸形）：病例报告并文献复习

Ultrasound diagnosis of central nervous system anomalies (bifid choroid plexus, ventriculomegaly, Dandy-Walker malformation) associated with multicystic dysplastic kidney disease in a trisomy 9 fetus: case report with literature review.

作者信息

Tonni Gabriele, Grisolia Giampaolo

机构信息

Prenatal Diagnostic Service, Guastalla Civil Hospital, Department of Obstetrics and Gynecology, Via Donatori Sangue, 2 Guastalla, Reggio Emilia, Italy.

出版信息

J Clin Ultrasound. 2013 Sep;41(7):441-7. doi: 10.1002/jcu.21999. Epub 2012 Oct 11.

DOI:10.1002/jcu.21999
PMID:23055272
Abstract

Trisomy 9 is a lethal chromosomal abnormality that rarely progresses beyond the second trimester of pregnancy. Multiple central nervous system anomalies, including bifid choroid plexus, ventriculomegaly, and Dandy-Walker malformation, associated with multicystic dysplastic kidney disease in a trisomy 9 fetus are reported. The prenatal ultrasound diagnosis has been aided by novel three-dimensional ultrasound software.

摘要

9号染色体三体是一种致死性染色体异常，很少能在妊娠中期之后继续发展。据报道，一名9号染色体三体胎儿存在多种中枢神经系统异常，包括脉络丛分裂、脑室扩大和Dandy-Walker畸形，并伴有多囊性发育不良肾病。新型三维超声软件辅助了产前超声诊断。

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