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胎儿无颅骨:5例新病例及文献复习

Fetal acrania: five new cases and review of the literature.

作者信息

Weissman A, Diukman R, Auslender R

机构信息

Department of Obstetrics and Gynecology, Rambam Medical Center, Haifa, Israel.

出版信息

J Clin Ultrasound. 1997 Nov-Dec;25(9):511-4. doi: 10.1002/(sici)1097-0096(199711/12)25:9<511::aid-jcu10>3.0.co;2-7.

DOI:10.1002/(sici)1097-0096(199711/12)25:9<511::aid-jcu10>3.0.co;2-7
PMID:9350573
Abstract

Acrania is a lethal malformation in which there is an absence of the flat skull bones covering the brain. Five new cases are described, and a review of the English-language medical literature is presented. The sonographic differential diagnosis of acrania includes anencephaly, large cephalocele, osteogenesis imperfecta, and hypophosphatasia. The diagnosis of acrania can be established sonographically even in the first trimester if a large mass of disorganized brain tissue covered only by a thin membrane is detected.

摘要

无脑颅骨畸形是一种致命的畸形,即覆盖大脑的扁平颅骨缺失。本文描述了5例新病例,并对英文医学文献进行了综述。无脑颅骨畸形的超声鉴别诊断包括无脑儿、巨大脑膨出、成骨不全和低磷酸酯酶症。即使在孕早期,如果检测到仅被一层薄膜覆盖的大量杂乱脑组织,也可通过超声诊断无脑颅骨畸形。

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Fetal acrania: five new cases and review of the literature.胎儿无颅骨:5例新病例及文献复习
J Clin Ultrasound. 1997 Nov-Dec;25(9):511-4. doi: 10.1002/(sici)1097-0096(199711/12)25:9<511::aid-jcu10>3.0.co;2-7.
2
[First trimester sonographic diagnosis of acrania].[孕早期无脑儿的超声诊断]
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Early prenatal diagnosis of acrania by transvaginal ultrasonography.
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Prenatal diagnosis of acrania associated with amniotic band syndrome.羊膜带综合征合并无脑畸形的产前诊断
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[Ultrasound and endoscopic image of exencephaly (acrania) in the 12th week of pregnancy].[妊娠12周时无脑儿(露脑畸形)的超声和内镜图像]
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Acrania.
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The role of the "beret" sign and other markers in ultrasound diagnostic of the acrania-exencephaly-anencephaly sequence stages."贝雷帽"征及其他标志物在无脑儿-脑膨出-无脑畸形序列各期超声诊断中的作用。
Arch Gynecol Obstet. 2020 Sep;302(3):619-628. doi: 10.1007/s00404-020-05650-y. Epub 2020 Jun 15.

引用本文的文献

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Imaging in the presence of meroanencephaly.无脑回畸形情况下的影像学表现。
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2
The role of the "beret" sign and other markers in ultrasound diagnostic of the acrania-exencephaly-anencephaly sequence stages."贝雷帽"征及其他标志物在无脑儿-脑膨出-无脑畸形序列各期超声诊断中的作用。
Arch Gynecol Obstet. 2020 Sep;302(3):619-628. doi: 10.1007/s00404-020-05650-y. Epub 2020 Jun 15.
3
Characteristics of fetuses evaluated due to suspected anencephaly: a population-based cohort study in southern Brazil.
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Sao Paulo Med J. 2015 Mar-Apr;133(2):101-8. doi: 10.1590/1516-3180.2013.8012608. Epub 2015 Mar 17.
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Anencephaly: MRI findings and pathogenetic theories.无脑儿:磁共振成像(MRI)表现及发病机制理论
Pediatr Radiol. 2004 Dec;34(12):1012-6. doi: 10.1007/s00247-004-1259-8. Epub 2004 Aug 5.
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Fetal acalvaria with amniotic band syndrome.胎儿无颅骨畸形合并羊膜带综合征。
Arch Dis Child Fetal Neonatal Ed. 2000 Jan;82(1):F11-3. doi: 10.1136/fn.82.1.f11.