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骶前脊膜膨出的遗传病例:10例报告。

Hereditary occurrence of anterior sacral meningocele: report of ten cases.

作者信息

Thomas M, Halaby F A, Hirschauer J S

出版信息

Spine (Phila Pa 1976). 1987 May;12(4):351-4. doi: 10.1097/00007632-198705000-00008.

DOI:10.1097/00007632-198705000-00008
PMID:3616749
Abstract

Anterior sacral meningocele is a rare and often occult disorder that is important to diagnose. It usually occurs sporadically, and familial case reports are rare. This report describes ten documented cases of anterior sacral meningocele in one family. Spanning five generations, it is the largest such series ever reported. In most cases, computerized tomography (CT) was employed to make the diagnosis. There was a high incidence of associated anomalies. The mode of transmission appears to be autosomal dominant with variable penetrance, similar to several other reported series.

摘要

骶前脊膜膨出是一种罕见且常隐匿的疾病,诊断至关重要。它通常散发出现,家族性病例报告罕见。本报告描述了一个家族中十例经记录的骶前脊膜膨出病例。该家族跨越五代,是迄今报道的此类病例中数量最多的系列。在大多数病例中,采用计算机断层扫描(CT)进行诊断。合并畸形的发生率很高。其遗传方式似乎为常染色体显性遗传,外显率可变,这与其他几个已报道的系列相似。

相似文献

1
Hereditary occurrence of anterior sacral meningocele: report of ten cases.骶前脊膜膨出的遗传病例:10例报告。
Spine (Phila Pa 1976). 1987 May;12(4):351-4. doi: 10.1097/00007632-198705000-00008.
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"Like mother, like son:" hereditary anterior sacral meningocele. Case report and review of the literature.
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Anterior sacral defects: an autosomal dominantly inherited condition.
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Anterior sacral meningocele occurring in one family. An autosomal dominantly inherited condition.一个家族中出现的骶前脊膜膨出。一种常染色体显性遗传疾病。
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Anterior sacral meningocele in pregnancy. Case report.妊娠期骶前脑脊膜膨出。病例报告。
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Occult anterior sacral meningocele.
Am J Dis Child. 1980 Apr;134(4):385-6. doi: 10.1001/archpedi.1980.04490010039013.
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Presacral meningocele associated with hereditary sacral agenesis and treated surgically: evaluation in three members of the same family.与遗传性骶骨发育不全相关且接受手术治疗的骶前脊膜膨出:对同一家族三名成员的评估
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Anterior sacral meningocele and Marfan syndrome: a review.骶前脑脊膜膨出与马方综合征:综述
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Anterior sacral meningocele: report of five cases and review of the literature.骶前脑脊膜膨出:5例报告并文献复习
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引用本文的文献

1
Giant anterior sacral meningocele and posterior sagittal approach.巨大骶前脑脊膜膨出与后矢状入路
Childs Nerv Syst. 2003 Nov;19(10-11):722-8. doi: 10.1007/s00381-003-0814-1. Epub 2003 Oct 24.
2
Autosomal dominant sacral agenesis: Currarino syndrome.常染色体显性骶骨发育不全:库拉里诺综合征。
J Med Genet. 2000 Aug;37(8):561-6. doi: 10.1136/jmg.37.8.561.