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1975 - 1984年匈牙利孤立性明显羊膜源性肢体缺损的研究

Study of isolated apparent amniogenic limb deficiency in Hungary, 1975-1984.

作者信息

Czeizel A E, Vitéz M, Kodaj I, Lenz W

机构信息

Department of Human Genetics and Teratology, National Institute of Hygiene-WHO Collaborating Centre for the Community Control of Hereditary Diseases, Budapest, Hungary.

出版信息

Am J Med Genet. 1993 Jun 1;46(4):372-8. doi: 10.1002/ajmg.1320460406.

Abstract

A population-based and validated data set of 206 cases with apparent amniogenic limb deficiency was ascertained in Hungary between 1975 and 1984. Such limb defects frequently (36%) associated with nonlimb abnormalities. In 134 cases with isolated defects typically more limbs are affected, upper and lower limbs, right and left sides, and both sexes are equally affected. Case-control analysis of such isolated cases indicates a lower socioeconomic status of parents, a higher parity, more frequent unwanted pregnancies, preterm birth, and a higher rate of threatened abortion. Familial occurrence was not found in 415 first-degree relatives.

摘要

1975年至1984年间,在匈牙利确定了一个基于人群且经验证的数据集,其中包含206例明显的羊膜生成性肢体缺陷病例。此类肢体缺陷常(36%)与非肢体异常相关。在134例孤立性缺陷病例中,通常更多肢体受到影响,上肢和下肢、右侧和左侧以及男女两性受影响程度相同。对此类孤立病例的病例对照分析表明,父母的社会经济地位较低、产次较高、意外怀孕更频繁、早产以及先兆流产率较高。在415名一级亲属中未发现家族性发病情况。

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