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全前脑畸形及相关异常的产前超声诊断

Prenatal ultrasound diagnosis of holoprosencephaly and associated anomalies.

作者信息

Chaudhari Hemang D, Thakkar Gurudatt, Darji Parth, Khokhani Pratik

机构信息

Department of Radiology, Smt. S.C.L. Municipal General Hospital, Smt. N.H.L. Municipal Medical College, Ahmedabad, Gujarat, India.

出版信息

BMJ Case Rep. 2012 Sep 25;2012:bcr0320126129. doi: 10.1136/bcr-03-2012-6129.

Abstract

Holoprosencephaly is a rare spectrum of cerebral and facial malformations resulting from incomplete division of the embryonic forebrain (prosencephalon) into distinct lateral cerebral hemisphere. Holoprosencephaly spectrum in the fetus is often associated with other anomalies, particularly of the face and extremities. Here we present three different cases of patients with holoprosencephaly who failed to attain routine sonography during 11-20 weeks owing to some unavoidable circumstances. Two of them were diagnosed during the third trimester and one in the late second trimester. Ultrasound findings of associated anomalies were confirmed after a clinical examination of the delivered fetuses.

摘要

前脑无裂畸形是一种罕见的脑和面部畸形谱系,由胚胎前脑(端脑)未完全分裂成不同的左右大脑半球所致。胎儿前脑无裂畸形谱系常与其他异常相关,尤其是面部和四肢异常。在此,我们报告3例前脑无裂畸形患者,由于一些不可避免的情况,在孕11 - 20周未能进行常规超声检查。其中2例在孕晚期诊断,1例在孕中期晚期诊断。经对分娩胎儿进行临床检查后,证实了相关异常的超声检查结果。

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本文引用的文献

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Holoprosencephaly.前脑无裂畸形
Orphanet J Rare Dis. 2007 Feb 2;2:8. doi: 10.1186/1750-1172-2-8.
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Genetics of ventral forebrain development and holoprosencephaly.腹侧前脑发育与全前脑畸形的遗传学
Curr Opin Genet Dev. 2000 Jun;10(3):262-9. doi: 10.1016/s0959-437x(00)00084-8.

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