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[丹迪-沃克畸形]

[Dandy-Walker malformation].

作者信息

Reith W, Haussmann A

机构信息

Klinik für Diagnostische, und Interventionelle Neuroradiologie, Universitätsklinikum des Saarlandes, Kirrberger Straße, 66424, Homburg-Saar, Deutschland.

出版信息

Radiologe. 2018 Jul;58(7):629-635. doi: 10.1007/s00117-018-0403-7.

DOI:10.1007/s00117-018-0403-7
PMID:29797040
Abstract

The Dandy-Walker malformation is the most frequent cerebral malformation. It is defined by hypoplasia and upward rotation of the vermis cerebelli, a cystic enlargement of the fourth ventricle and in total an enlarged posterior fossa with cranially shifted position of the lateral sinus, tentorium and torcula herophili. This malformation was first described by Dandy and Blackfan in 1914 then supplemented again by Taggart and Walker in 1942. The current description as Dandy-Walker malformation was introduced in 1954 by Bender. In addition to these classical findings, the Dandy-Walker malformation is characterized by other abnormalities and malformations of the central nervous system (CNS) including agenesis of the corpus callosum, heterotopia, occipital meningocele, visual deficits and epilepsy. Neurogenetic and imaging examinations have led to a better understanding of this malformation.

摘要

丹迪-沃克畸形是最常见的脑畸形。它的定义为小脑蚓部发育不全并向上旋转、第四脑室囊性扩大,以及后颅窝整体扩大,伴有外侧窦、小脑幕和窦汇的颅侧移位。这种畸形最早由丹迪和布莱克范于1914年描述,随后在1942年由塔格特和沃克再次补充。目前作为丹迪-沃克畸形的描述由本德于1954年提出。除了这些经典表现外,丹迪-沃克畸形还具有中枢神经系统(CNS)的其他异常和畸形,包括胼胝体发育不全、异位、枕部脑膜膨出、视力缺陷和癫痫。神经遗传学和影像学检查使人们对这种畸形有了更好的理解。

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本文引用的文献

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[Dandy-walker syndrome and microdeletions on chromosome 7].[丹迪-沃克综合征与7号染色体微缺失]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Feb;29(1):48-51. doi: 10.3760/cma.j.issn.1003-9406.2012.01.012.
2
Hydrocephalus in Dandy-Walker malformation.丹迪-沃克畸形中的脑积水
Childs Nerv Syst. 2011 Oct;27(10):1665-81. doi: 10.1007/s00381-011-1544-4. Epub 2011 Sep 17.
3
Posterior fossa malformations.后颅窝畸形
丹迪-沃克综合征:对100篇被引用次数最多的文章的文献计量分析
Ann Med Surg (Lond). 2024 Nov 7;86(12):7278-7289. doi: 10.1097/MS9.0000000000002725. eCollection 2024 Dec.
4
Radiological characteristics of the posterior fossa of the fetal skull and presentation of a rare case of antenatal screening for Dandy-Walker malformation using antenatal fetal ultrasound and MRI.胎儿颅骨后颅窝的放射学特征及1例罕见的产前通过胎儿超声和MRI筛查丹迪-沃克畸形的病例报告
Int J Surg Case Rep. 2024 Feb;115:109037. doi: 10.1016/j.ijscr.2023.109037. Epub 2023 Nov 20.
5
Dandy-Walker malformation and intermittent explosive disorder: A case report.丹迪-沃克畸形与间歇性爆发性障碍:一例报告
SAGE Open Med Case Rep. 2022 Jun 7;10:2050313X221103355. doi: 10.1177/2050313X221103355. eCollection 2022.
6
Y-shaped shunt for the treatment of Dandy-Walker malformation combined with giant arachnoid cysts: A case report.Y形分流术治疗Dandy-Walker畸形合并巨大蛛网膜囊肿:一例报告
World J Clin Cases. 2022 Mar 6;10(7):2275-2280. doi: 10.12998/wjcc.v10.i7.2275.
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Neurosurgery. 2011 Mar;68(3):788-803; discussion 803. doi: 10.1227/NEU.0b013e318207ac91.
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Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient.Dandy-Walker 畸形伴 ZIC1 和 ZIC4 杂合性缺失:一例新病例报告。
Am J Med Genet A. 2011 Jan;155A(1):130-3. doi: 10.1002/ajmg.a.33652. Epub 2010 Dec 10.
7
Hydrocephalus associated with cystic dilation of the foramina of Magendie and Luschka.与马让迪孔和路施卡孔囊性扩张相关的脑积水。
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