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中线脑和颅骨先天畸形。

Midline congenital malformations of the brain and skull.

机构信息

Colombia University Clinic, International Sanitas Organization, Bogotá, Colombia.

出版信息

Neuroimaging Clin N Am. 2011 Aug;21(3):429-82, vii. doi: 10.1016/j.nic.2011.05.001.

DOI:10.1016/j.nic.2011.05.001
PMID:21807309
Abstract

Considering the complexity of congenital midline abnormalities of the brain, it is mandatory to review and summarize the subject, based on embryologic development, developmental biology, clinical approach, neuroimaging, and molecular genetics. There are still several areas of poor knowledge, confusion, and controversy. Pathogenesis in some cases is not clearly understood, and definitions and limits among different diseases are not apparent. This article reviews several malformations of the skull and brain with the aims of making image interpretation easier, enabling an accurate diagnosis, establishing the prognosis, and aiding in genetic counseling.

摘要

鉴于脑中线先天性异常的复杂性,有必要基于胚胎发育、发育生物学、临床方法、神经影像学和分子遗传学来回顾和总结这一主题。目前仍有一些领域的知识匮乏、存在混淆和争议。某些情况下的发病机制尚不清楚,不同疾病之间的定义和界限也不明显。本文回顾了几种颅骨和脑畸形,目的是使图像解读更加容易,能够做出准确的诊断,确定预后,并提供遗传咨询。

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1
Midline congenital malformations of the brain and skull.中线脑和颅骨先天畸形。
Neuroimaging Clin N Am. 2011 Aug;21(3):429-82, vii. doi: 10.1016/j.nic.2011.05.001.
2
[Constitutional brain abnormalities of the midline. A developmental, radiologic and clinical study].[中线结构的先天性脑异常。一项发育、放射学及临床研究]
Nervenarzt. 1971 Oct;42(10):531-9.
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Imaging of Congenital Malformations.
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[Description of a case of thanatophoric dysplasia with cloverleaf skull].[一例伴有三叶形头盖骨的致死性骨发育不全病例描述]
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Congenital brain abnormalities: an update on malformations of cortical development and infratentorial malformations.先天性脑异常:皮质发育畸形和幕下畸形的最新进展
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The value of computer axial tomography (CAT) in cranio-cerebral malformations.计算机断层扫描(CAT)在颅脑畸形中的价值。
Br J Radiol. 1978 Mar;51(603):171-90. doi: 10.1259/0007-1285-51-603-171.
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[Congenital brain malformations].[先天性脑畸形]
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[Prenatal sonography and computed tomography of fetal cerebral malformations].[胎儿脑畸形的产前超声检查与计算机断层扫描]
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