Laziuk G I, Lur'e I V, Kravtsova G I, Kirillova I A, Nedz'ved' M K, Puchkov G F
Arkh Patol. 1976;38(6):16-22.
Data of the literature (200 section observations) and those of 10 authors' own observations on the syndrome of trisomy with relation to chromosome 18 are presented. The pathologoanatomic diagnosis of Edwards' syndrome can be established without an investigation of chromosomes on the basis of a complex of congenital defects present in the newborn. The main of them are: prenatal hypoplasia, dolichocephaly, microgenia, concha auriculae drawn in the horizontal plane, flexor position of bones, shortness and thickness of the great toe and protruding heel, thickness and distortion of convolution of the dorsal lip of the olivary nucleus, hypoplasia of the cerebellum, heterotopia of the piriform Purkinje cells into the white matter of the cerebellum and foci of nondifferentiated cells in the white matter of the great hemispheres; complex cardiac defects--Meckel's diverticulum, fused kidneys (horseshoe- or L-shaped) with small cysts in the renal cortex; and the presence of 10 or more arches on fingers and toes in combination with proximal or intermediate localization of axial triradius.
本文呈现了文献数据(200例观察病例)以及10位作者自身关于18号染色体三体综合征的观察结果。在新生儿存在一系列先天性缺陷的基础上,无需进行染色体检查即可确立爱德华兹综合征的病理解剖诊断。其主要缺陷包括:产前发育不全、长头畸形、小下颌、耳廓在水平面内凹陷、骨骼呈屈曲位、大脚趾短粗且足跟突出、橄榄核背侧唇沟增厚及扭曲、小脑发育不全、梨状浦肯野细胞异位至小脑白质以及大脑半球白质中未分化细胞灶;复杂心脏缺陷——梅克尔憩室、融合肾(马蹄形或L形)且肾皮质有小囊肿;手指和脚趾有10个或更多指(趾)弓,同时轴三叉点位于近端或中间位置。