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首页> 外文期刊>American journal of medical genetics, Part A >Review and hypothesis: syndromes with severe intrauterine growth restriction and very short stature--are they related to the epigenetic mechanism(s) of fetal survival involved in the developmental origins of adult health and disease?
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Review and hypothesis: syndromes with severe intrauterine growth restriction and very short stature--are they related to the epigenetic mechanism(s) of fetal survival involved in the developmental origins of adult health and disease?

机译：回顾与假设：具有严重的子宫内生长受限和身材矮小的综合症，是否与胎儿存活的表观遗传机制有关，这些机制与成人健康和疾病的发展起源有关？

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摘要

Diagnosing the specific type of severe intrauterine growth restriction (IUGR) that also has post-birth growth restriction is often difficult. Eight relatively common syndromes are discussed identifying their unique distinguishing features, overlapping features, and those features common to all eight syndromes. Many of these signs take a few years to develop and the lifetime natural history of the disorders has not yet been completely clarified. The theory behind developmental origins of adult health and disease suggests that there are mammalian epigenetic fetal survival mechanisms that downregulate fetal growth, both in order for the fetus to survive until birth and to prepare it for a restricted extra-uterine environment, and that these mechanisms have long lasting effects on the adult health of the individual. Silver-Russell syndrome phenotype has recently been recognized to be related to imprinting/methylation defects. Perhaps all eight syndromes, including those with single gene mutation origin, involve the mammalian mechanism(s) of fetal survival downsizing. Insights into those mechanisms should provide avenues to understanding the natural history, the heterogeneity and possible therapy not only for these eight syndromes, but for the common adult diseases with which IUGR is associated.
机译：诊断严重的宫内生长受限（IUGR）的特定类型同时也具有出生后生长受限，这通常很困难。讨论了八个相对常见的综合症，以识别其独特的区别特征，重叠特征以及所有八个综合症共有的特征。许多这些迹象需要几年的时间才能发展出来，而且这种疾病的终生自然史尚未完全阐明。成年健康和疾病的发展起源背后的理论表明，存在哺乳动物表观遗传的胎儿存活机制，它们下调了胎儿的生长，既使胎儿存活到出生，又为胎儿在受限的宫外环境做准备，这些机制对个人的成年健康有长期持续的影响。最近已经认识到银-罗素综合征表型与印迹/甲基化缺陷有关。也许所有八种综合症，包括那些具有单一基因突变起源的综合症，都涉及胎儿存活缩小的哺乳动物机制。对这些机制的见识不仅应为了解自然史，异质性以及可能针对这八种综合症，而且对于与IUGR相关的常见成人疾病提供途径。

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