Non-Genetic Risk Factors for Holoprosencephaly
Non-Genetic Risk Factors for Holoprosencephaly
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DOI：
10.1002/ajmg.c.30242
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发表时间：
2010-02-15
影响因子：
3.1
通讯作者：
Rasmussen, Sonja A.
中科院分区：
文献类型：
--
作者：
Johnson, Candice Y.;Rasmussen, Sonja A.
前脑无裂畸形（HPE）是一种先天性脑缺陷，其特征是胚胎前脑不完全分裂成左右半球。虽然HPE的病例中有很大一部分可归因于遗传异常，但许多病例的病因仍然未知，非遗传风险因素被认为是重要的贡献者。由于这种缺陷的出生患病率较低，因此很难进行足够大规模的研究来确定风险因素，本文总结了在病例报告和病例系列、动物研究和流行病学研究中研究的HPE非遗传风险因素，包括母体疾病、治疗和非治疗暴露、营养因素和社会人口因素，文章还强调了研究设计中的挑战和进一步的研究领域，以更好地了解HPE的病因。出版2010 Wiley-Liss，Inc.
Holoprosencephaly (HPE) is a congenital defect of the brain characterized by incomplete cleavage of the embryonic forebrain into left and right hemispheres. Although a substantial proportion of cases of HPE can be attributed to genetic abnormalities, the etiology in many cases remains unknown, with non-genetic risk factors believed to be important contributors. Due to the low birth prevalence of this defect, it has proven difficult to conduct studies of sufficient size to identify risk factors with certainty, This article provides a summary of non-genetic risk factors for HPE that have been investigated in case reports and case series, animal studies, and epidemiologic studies, including maternal illnesses, therapeutic and non-therapeutic exposures, nutritional factors, and sociodemographic factors, The article also highlights challenges in study design and further areas for research to better understand the etiology of HPE. Published 2010 Wiley-Liss, Inc.