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本文引用的文献

1
Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: searching for population variations.国际出生缺陷监测系统信息交换所中全前脑畸形的发生率:探寻人群差异。
Birth Defects Res A Clin Mol Teratol. 2008 Aug;82(8):585-91. doi: 10.1002/bdra.20479.
2
Holoprosencephaly.前脑无裂畸形
Orphanet J Rare Dis. 2007 Feb 2;2:8. doi: 10.1186/1750-1172-2-8.
3
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.人类GLI2基因的功能丧失突变与垂体异常和全前脑样特征有关。
Proc Natl Acad Sci U S A. 2003 Nov 11;100(23):13424-9. doi: 10.1073/pnas.2235734100. Epub 2003 Oct 27.
4
THE FACE PREDICTS THE BRAIN: DIAGNOSTIC SIGNIFICANCE OF MEDIAN FACIAL ANOMALIES FOR HOLOPROSENCEPHALY (ARHINENCEPHALY).面部预示大脑:正中面部异常对全前脑畸形(无脑回畸形)的诊断意义。
Pediatrics. 1964 Aug;34:256-63.
5
Middle interhemispheric variant of holoprosencephaly: a distinct cliniconeuroradiologic subtype.前脑无裂畸形的中间脑间变异型:一种独特的临床神经放射学亚型。
Neurology. 2002 Dec 24;59(12):1860-5. doi: 10.1212/01.wnl.0000037483.31989.b9.
6
Neuroanatomy of holoprosencephaly as predictor of function: beyond the face predicting the brain.全前脑畸形的神经解剖学作为功能的预测指标:超越面部预测大脑。
Neurology. 2002 Oct 8;59(7):1058-66. doi: 10.1212/wnl.59.7.1058.
7
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.
8
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.全前脑畸形中sonic hedgehog基因的突变谱:SHH突变导致相当一部分常染色体显性全前脑畸形。
Hum Mol Genet. 1999 Dec;8(13):2479-88. doi: 10.1093/hmg/8.13.2479.

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.

DOI:10.1136/bcr-03-2012-6129
PMID:23010458
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4542616/
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。