Cusi V, Antich J, Vela A, Vila J
Servei d'anatomia patologica, Hospital Sant Joan de Deu, Barcelona, Spain.
Genet Couns. 1993;4(3):203-5.
A 28-years-old pregnant woman was examined by fetal ultrasonography at 18 weeks' gestation. Anencephaly was diagnosed, followed by prostaglandin induced abortion and fetotomy. Fetal fragments showed a very small head, bilateral anophthalmy, absence of nasal structures and calvarium, intact cranial skin and a very small cranial cavity. The right lower limb was reduced to a few toes covered by a large amniotic adhesion. The left lower limb showed an amniotic band from sole to thigh. The abdominal wall was absent. The diagnoses were amniotic adhesion syndrome and cephalic pole induction failure. The pathogenesis of these defects has been the subject of controversy. Vascular disruption and secondary reduction of the paraaxial mesodermal cells can explain the anomalies observed in this case.
一名28岁孕妇在妊娠18周时接受了胎儿超声检查。诊断为无脑儿,随后进行了前列腺素引产和截胎术。胎儿碎片显示头部极小,双侧无眼球,无鼻结构和颅骨,颅皮肤完整但颅腔极小。右下肢缩为几个被大片羊膜粘连覆盖的脚趾。左下肢从足底到大腿有一条羊膜带。腹壁缺失。诊断为羊膜粘连综合征和头极诱导失败。这些缺陷的发病机制一直存在争议。血管破坏和轴旁中胚层细胞继发性减少可以解释该病例中观察到的异常情况。