Isaacson G, Gargus J J, Mahoney M J
Am J Med Genet. 1984 Apr;17(4):835-9. doi: 10.1002/ajmg.1320170413.
We present the case of an 18-week abortus with lethal multiple pterygium syndrome and hydrops. Radiographic and anatomic study showed none of the bony abnormalities reported in live-born children with multiple pterygium syndrome. The pathogenesis of the hydrops was not apparent. The findings of cleft palate, pulmonary hypoplasia, muscular atrophy, gracile thoracic bones, and fetal death are typical of the lethal variant.
我们报告一例18周流产胎儿，患有致死性多发性翼状胬肉综合征并水肿。影像学和解剖学研究显示，患有多发性翼状胬肉综合征的活产儿中所报告的骨异常在该病例中均未出现。水肿的发病机制尚不明确。腭裂、肺发育不全、肌肉萎缩、纤细的胸廓骨骼以及胎儿死亡等表现是致死性变异型的典型特征。
