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并腿畸形:哥伦比亚卡利的两例病例

Sirenomelia: two cases in Cali, Colombia.

作者信息

Saldarriaga Wilmar, Salcedo-Arellano Maria Jimena, Ramirez-Cheyne Julian

机构信息

Department of Morphology, Universidad del Valle, Cali, Valle del Cauca, Colombia.

Department of Medicine and Surgery, Universidad del Valle, Cali, Valle del Cauca, Colombia.

出版信息

BMJ Case Rep. 2015 Jan 30;2015:bcr2014207543. doi: 10.1136/bcr-2014-207543.

Abstract

We report two cases of sirenomelia, a rare congenital defect with a prevalence rate of 1:100 000 births; both cases were observed in Cali, Colombia. Both pregnant women were referred from Buenaventura, Colombia. The expecting mothers shared multiple adverse sociodemographic factors. Their homes were located in a city where the entire population is of low socioeconomic status living under conditions of extreme poverty. They were uneducated, with nutritional deficiencies and no access to drinking water most of the time. Both were exposed to water and fish from a nearby river contaminated with leachate from a poorly managed landfill. A similar relation was previously reported in Cali in 2005 between environmental factors and sirenomelia. We suggest that there is a common aetiological factor of environmental origin between these two sirenomelia cases and propose that exposure to derivatives from landfills should be included among the factors for this rare defect of multifactorial aetiological origin.

摘要

我们报告了两例并腿畸形病例,这是一种罕见的先天性缺陷,发病率为1:100000活产;两例均在哥伦比亚的卡利市发现。两名孕妇均来自哥伦比亚的布埃纳文图拉市。这两位准妈妈有多个不利的社会人口学因素。她们的家位于一个整个人口社会经济地位低下、生活在极端贫困条件下的城市。她们未受过教育,有营养缺乏问题,并且大部分时间无法获得饮用水。两人都接触过来自附近河流的水和鱼,这些河流被管理不善的垃圾填埋场的渗滤液污染。2005年在卡利曾有过关于环境因素与并腿畸形之间类似关系的报道。我们认为这两例并腿畸形病例存在共同的环境起源病因,并提议将接触垃圾填埋场衍生物纳入这种多因素病因罕见缺陷的因素之中。

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Sirenomelia: two cases in Cali, Colombia.并腿畸形:哥伦比亚卡利的两例病例
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本文引用的文献

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Preconception care: nutritional risks and interventions.孕前保健:营养风险与干预措施。
Reprod Health. 2014 Sep 26;11 Suppl 3(Suppl 3):S3. doi: 10.1186/1742-4755-11-S3-S3.
4
Sirenomelia: case reports and current concepts of pathogenesis.下肢联体畸形:病例报告及发病机制的当前概念
Pediatr Dev Pathol. 2012 Sep-Oct;15(5):403-6. doi: 10.2350/12-05-1199-CC.1. Epub 2012 Jul 20.
5
Very rare defects: what can we learn?非常罕见的缺陷:我们能从中得到什么启示?
Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):252-61. doi: 10.1002/ajmg.c.30315. Epub 2011 Oct 14.
8
Sirenomelia and cyclopia cluster in Cali, Colombia.
Am J Med Genet A. 2008 Oct 15;146A(20):2626-36. doi: 10.1002/ajmg.a.32506.
9
Clusters of sirenomelia in South America.南美洲的并腿畸形集群。
Birth Defects Res A Clin Mol Teratol. 2009 Feb;85(2):112-8. doi: 10.1002/bdra.20492.

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