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[先天性发育缺陷的主要病因分类以及诊断和死因形成问题]

[The main etiologic groups of congenital developmental defects and the problems of diagnosis and thanatogenesis].

作者信息

Laziuk G I, Cherstvoĭ E D

出版信息

Arkh Patol. 1986;48(9):20-5.

PMID:2947555
Abstract

The proportion of congenital developmental defects (CDD) in children decreased in perinatal or early age is increasing. According to national and foreign data this figure is in the range of 21-41%. The etiologic structure of CDD for the last 5 years (1980-1984) basing on the data from the Minsk Teratologic Center has not practically changed. As in the previous 5 years, 50.8% of CDD belong to multifactorial ones, 14.3% are due to single gene mutations (8.4% of them are inherited according to dominant type and 5.9%--according to recessive type). Chromosome and gene mutations caused 7.9% of CDD. About 2% of CDD are induced by the effect of environmental factors on the embryo (less frequently on the fetus). Etiology of 25.1% of CDD is not clear.

摘要

围产期或儿童早期先天性发育缺陷(CDD)的比例正在上升。根据国内外数据,这一比例在21%-41%之间。根据明斯克致畸学中心的数据,过去5年(1980-1984年)CDD的病因结构实际上没有变化。与前5年一样,50.8%的CDD属于多因素缺陷,14.3%是由单基因突变引起的(其中8.4%按显性类型遗传,5.9%按隐性类型遗传)。染色体和基因突变导致7.9%的CDD。约2%的CDD是由环境因素对胚胎(较少情况下对胎儿)的影响引起的。25.1%的CDD病因不明。

相似文献

1
[The main etiologic groups of congenital developmental defects and the problems of diagnosis and thanatogenesis].[先天性发育缺陷的主要病因分类以及诊断和死因形成问题]
Arkh Patol. 1986;48(9):20-5.
2
[Importance of the diagnosis of congenital developmental defects in the practice of pathologists].[先天性发育缺陷诊断在病理学家实践中的重要性]
Arkh Patol. 1980;42(7):24-8.
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[Congenital developmental defects in children in the southern Ukraine].[乌克兰南部儿童的先天性发育缺陷]
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Factors influencing perinatal wastage.影响围产期损耗的因素。
Clin Obstet Gynaecol. 1974 Apr;1(1):1-15.
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[CNS pathology in hereditary syndromes of congenital developmental defects].[先天性发育缺陷遗传性综合征中的中枢神经系统病理学]
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Congenital malformations detected in 731 autopsies of children aged 0 to 14 years.
Teratology. 1987 Jun;35(3):305-7. doi: 10.1002/tera.1420350303.
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[Congenital developmental defects negatively affecting the viability of children of Kursk region: prevalence, pattern, trends].[影响库尔斯克地区儿童生存能力的先天性发育缺陷:患病率、模式、趋势]
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[The contribution of genetic factors to perinatal pathology and infant mortality].[遗传因素对围产期病理学及婴儿死亡率的影响]
Vestn Akad Med Nauk SSSR. 1991(5):11-3.
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Environmental causes of human congenital malformations: the pediatrician's role in dealing with these complex clinical problems caused by a multiplicity of environmental and genetic factors.人类先天性畸形的环境成因:儿科医生在应对由多种环境和遗传因素引发的这些复杂临床问题中的作用。
Pediatrics. 2004 Apr;113(4 Suppl):957-68.
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[Postmortem examination of congenital developmental defects in children and their role in thanatogenesis].
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Am J Hum Genet. 2007 May;80(5):825-45. doi: 10.1086/513442. Epub 2007 Apr 4.
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The epidemiology of congenital abnormalities of the central nervous system in children.儿童中枢神经系统先天性异常的流行病学
Neurosci Behav Physiol. 1993 Jan-Feb;23(1):94-6. doi: 10.1007/BF01182645.