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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.

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。

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