Reid C O, Hall J G, Anderson C, Bocian M, Carey J, Costa T, Curry C, Greenberg F, Horton W, Jones M
Am J Med Genet. 1986 Aug;24(4):701-10. doi: 10.1002/ajmg.1320240415.
We reviewed 225 cases of amyoplasia, and the association of amyoplasia with gastroschisis and with monozygotic twinning was confirmed. In addition, an apparently increased association of bowel atresia and defects in the muscular layer of the trunk wall with amyoplasia was observed. The association of amyoplasia, monozygotic twinning, and these trunk wall defects strongly suggests that the pathogenesis of amyoplasia is linked to some type of vascular compromise.
我们回顾了225例肢体缺如病例，证实了肢体缺如与腹裂及单卵双胎之间的关联。此外，还观察到肠闭锁以及躯干壁肌层缺陷与肢体缺如之间存在明显增加的关联。肢体缺如、单卵双胎以及这些躯干壁缺陷之间的关联强烈提示，肢体缺如的发病机制与某种类型的血管受损有关。
