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枕部脑膨出合并多发先天畸形 1 例报告

Occipital Encephalocele with Multiple Birth Defects: A Case Report.

机构信息

Department of Pediatrics, Lumbini Medical College, Palpa, Nepal.

Department of Neurosurgery, Lumbini Medical College, Palpa, Nepal.

出版信息

JNMA J Nepal Med Assoc. 2021 Oct 15;59(242):1040-1043. doi: 10.31729/jnma.6542.

DOI:10.31729/jnma.6542
PMID:35199698
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9107817/
Abstract

A full-term female baby presented at 24 hours of life at the emergency department with occipital encephalocele, bilateral cleft lip, and cleft palate. She was born to a second gravida mother with no consanguinity between the parents. On examination, encephalocele was 10centimeters x 7centimeters in size with bilateral cleft lip and palate. It presents the opportunity for healthcare professionals to learn about a group of congenital neurological disorders in the content of a rare case presentation and highlights the importance of ultrasonography in the antenatal period for the detection of neural tube defects in the early stage for proper counselling and management. A compulsory prenatal diagnosis of the suspected family should be done by the intervention of the public sector of any country so that we can prevent and avoid abnormal birth.

摘要

一名足月女性婴儿在出生后 24 小时因枕部脑膨出、双侧唇裂和腭裂到急诊科就诊。她的母亲为经产妇,无近亲结婚。检查发现,脑膨出大小为 10 厘米 x 7 厘米,伴有双侧唇裂和腭裂。该病例为医疗保健专业人员提供了一个了解一组先天性神经发育障碍的机会,该病例罕见,强调了超声检查在产前检查中的重要性,以便在早期发现神经管缺陷,为适当的咨询和管理提供依据。任何国家的公共部门都应该对疑似家庭进行强制性产前诊断,以预防和避免异常分娩。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c1de/9107817/2d929ed81689/JNMA-59-242-1040-g3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c1de/9107817/63c59c92d8ec/JNMA-59-242-1040-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c1de/9107817/ccb8d7399e5b/JNMA-59-242-1040-g2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c1de/9107817/2d929ed81689/JNMA-59-242-1040-g3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c1de/9107817/63c59c92d8ec/JNMA-59-242-1040-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c1de/9107817/ccb8d7399e5b/JNMA-59-242-1040-g2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c1de/9107817/2d929ed81689/JNMA-59-242-1040-g3.jpg

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本文引用的文献

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Occipital Encephalocele: Cause, Incidence, Neuroimaging and Surgical Management.枕部脑膨出:病因、发病率、神经影像学及手术治疗
Curr Pediatr Rev. 2020;16(3):200-205. doi: 10.2174/1573396315666191018161535.
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National population-based estimates for major birth defects, 2010-2014.2010-2014 年全国主要出生缺陷发生率的基于人群的估计。
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Estimates of global and regional prevalence of neural tube defects for 2015: a systematic analysis.估计全球和区域神经管缺陷患病率 2015 年:系统分析。
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Median facial cleft with a frontoethmoidal encephalocele treated with craniofacial bipartition and free radial forearm flap: a case report.采用颅面二分法和游离桡侧前臂皮瓣治疗的伴有额筛部脑膨出的面正中裂:病例报告
Skull Base. 2010 Mar;20(2):119-23. doi: 10.1055/s-0029-1238216.
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