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.
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。