Rohr M, Majewski F, Michaelis R
Klin Padiatr. 1980 Sep;192(5):474-80. doi: 10.1055/s-2008-1035628.
Four children are described with amniotic deformities in the craniofacial region. Besides encephaloceles, hydrocephalus, facial clefts, amniotic bands and furrows we observed in three of these children the deformities of the extremities which are characteristic of amniogenic malformations, such as syndactylias and mutilations, associated with ring constructions. The article describes the state of knowledge with regard to pathogenesis. Epidemiology of the disease permits to assume a very low risk of repeat occurrence with the parents concerned.
本文描述了4例颅面部羊膜畸形患儿。除脑膨出、脑积水、面部裂隙、羊膜带和沟纹外，我们在其中3例患儿中观察到了肢体畸形，这些畸形是羊膜源性畸形的特征性表现，如并指（趾）畸形和肢体残缺，并伴有环状结构。本文还描述了关于发病机制的知识现状。该疾病的流行病学情况表明，相关父母再次生育时出现这种情况的风险极低。
