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脊柱裂与尿道下裂:非随机关联还是X连锁隐性疾病?

Spina bifida and hypospadias: a non random association or an X-linked recessive condition?

作者信息

Martínez-Frías M L

机构信息

Departamento de Farmacología, Facultad de Medicina, Universidad Complutense, Madrid, Spain.

出版信息

Am J Med Genet. 1994 Aug 1;52(1):5-8. doi: 10.1002/ajmg.1320520103.

Abstract

Here we describe a statistically significant association between hypospadias and spina bifida. This association was identified through the Spanish Collaborative Study of Congenital Malformations (ECEMC), where the observed number of cases was greater (P << 0.0005) than expected just by chance among males. We also detected a pair of concordant twins who had monochorial monoamniotic placenta. To the best of our knowledge, this is the first report of this combination of defects, consequently it must be confirmed whether this statistic association is an entity.

摘要

在此,我们描述了尿道下裂与脊柱裂之间具有统计学意义的关联。这种关联是通过西班牙先天性畸形协作研究(ECEMC)确定的,在该研究中,观察到的病例数在男性中比仅由偶然因素预期的要多(P << 0.0005)。我们还检测到一对具有单绒毛膜单羊膜胎盘的同卵双胞胎。据我们所知,这是这种缺陷组合的首次报告,因此必须确认这种统计关联是否为一种实体。

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