Abstract：
BACKGROUND: Chromatinopathies are a heterogeneous group of genetic disorders caused by pathogenic variants in genes coding for chromatin state balance proteins. Remarkably, many of these syndromes present unbalanced postnatal growth, both under- and over-, although little has been described in the literature. Fetal growth measurements are common practice in pregnancy management and values within normal ranges indicate proper intrauterine growth progression; on the contrary, abnormalities in intrauterine fetal growth open the discussion of possible pathogenesis affecting growth even in the postnatal period.
METHODS: Among the numerous chromatinopathies, we have selected six of the most documented in the literature offering evidence about two fetal overgrowth (Sotos and Weaver syndrome) and four fetal undergrowth syndromes (Bohring Opitz, Cornelia de Lange, Floating-Harbor, and Meier Gorlin syndrome), describing their molecular characteristics, maternal biochemical results and early pregnancy findings, prenatal ultrasound findings, and postnatal characteristics.
CONCLUSIONS: To date, the scarce data in the literature on prenatal findings are few and inconclusive, even though these parameters may contribute to a more rapid and accurate diagnosis, calling for a better and more detailed description of pregnancy findings.
METHODS: Among the numerous chromatinopathies, we have selected six of the most documented in the literature offering evidence about two fetal overgrowth (Sotos and Weaver syndrome) and four fetal undergrowth syndromes (Bohring Opitz, Cornelia de Lange, Floating-Harbor, and Meier Gorlin syndrome), describing their molecular characteristics, maternal biochemical results and early pregnancy findings, prenatal ultrasound findings, and postnatal characteristics.
CONCLUSIONS: To date, the scarce data in the literature on prenatal findings are few and inconclusive, even though these parameters may contribute to a more rapid and accurate diagnosis, calling for a better and more detailed description of pregnancy findings.
摘要：
背景：色谱病是一组异质性的遗传疾病，由编码染色质状态平衡蛋白的基因中的致病变异引起。值得注意的是,这些综合征中的许多表现出产后生长不平衡，下-和上-，尽管文献中很少描述。胎儿生长测量是妊娠管理中的常见做法，正常范围内的值表明宫内生长进展适当；相反，胎儿宫内生长异常打开了即使在出生后影响生长的可能发病机制的讨论。
方法：在众多的色谱病中，我们选择了文献中记录最多的六个，这些文献提供了关于两个胎儿过度生长（Sotos和Weaver综合征）和四个胎儿生长不足综合征的证据（BohringOpitz，CorneliadeLange,浮动港,和MeierGorlin综合征），描述它们的分子特征，母体生化结果和早期妊娠结果，产前超声检查结果，和产后特征。
结论：迄今为止，关于产前发现的文献中的稀缺数据很少且没有定论，即使这些参数可能有助于更快速和准确的诊断，呼吁更好，更详细地描述怀孕发现。
方法：在众多的色谱病中，我们选择了文献中记录最多的六个，这些文献提供了关于两个胎儿过度生长（Sotos和Weaver综合征）和四个胎儿生长不足综合征的证据（BohringOpitz，CorneliadeLange,浮动港,和MeierGorlin综合征），描述它们的分子特征，母体生化结果和早期妊娠结果，产前超声检查结果，和产后特征。
结论：迄今为止，关于产前发现的文献中的稀缺数据很少且没有定论，即使这些参数可能有助于更快速和准确的诊断，呼吁更好，更详细地描述怀孕发现。
