[Pathological anatomy of Edwards' syndrome (trisomy 18)].
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.
D000015:Abnormalities, Multiple / Q000473:pathology; D002869:Chromosome Aberrations / Q000473:pathology*; D025063:Chromosome Disorders; D002902:Chromosomes, Human, 16-18; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014314:Trisomy
Patologicheskaia anatomiia sindroma Edvardsa (trisomii 18