Martínez-Frías M L, Bermejo E, Frías J L
ECEMC and Department of Pharmacology, Universidad Complutense, Madrid, Spain.
Am J Med Genet. 1999 Jun 4;84(4):365-8. doi: 10.1002/(sici)1096-8628(19990604)84:4<365::aid-ajmg11>3.0.co;2-9.
Here we present the analysis of deformations observed in a series of 26,810 consecutive infants with congenital defects. We observed that 3.88% of these infants had deformations, for a prevalence figure of 0.07% live-born infants. From the present study we can conclude that there are three different types of deformation sequences: one with polyhydramnios, thin skin without dermal ridges, hypotonia, and multiple deformations (hypokinesia sequence), which is most often due to intrinsic problems; another with oligohydramnios, redundant thick skin, and multiple deformations, which can be produced by intrinsic or extrinsic factors; and the third, with normal amniotic fluid volume, which is due to compression of different causes. Deformations of extrinsic cause are more frequently isolated defects and have a better prognosis, while deformations of intrinsic origin are more frequently associated with other congenital anomalies and, generally, have a poor prognosis.
在此，我们展示了对连续26810例先天性缺陷婴儿所观察到的畸形情况的分析。我们发现，这些婴儿中有3.88%存在畸形，活产婴儿中的患病率为0.07%。从本研究中我们可以得出结论，有三种不同类型的畸形序列：一种伴有羊水过多、无皮嵴的薄皮肤、肌张力减退和多种畸形（运动减少序列），这最常见于内在问题；另一种伴有羊水过少、多余的厚皮肤和多种畸形，其可由内在或外在因素引起；第三种羊水体积正常，是由不同原因的压迫所致。外在原因导致的畸形更常为孤立性缺陷，预后较好，而内在起源的畸形更常与其他先天性异常相关，且通常预后较差。
