Thirty-one autopsy cases of trisomy 18: clinical features and pathological findings

Pediatr Pathol. 1989;9(4):445-57. doi: 10.3109/15513818909022365.


The clinical features and morphological findings in 31 Japanese infants with trisomy 18 are presented. The majority were small-for-date infants. There was no sex predominance in our series, as opposed to male:female ratios of 1:3 reported in the literature. The average age at death was greater in females than in males. Cardiovascular anomalies were consistently present; ventricular septar defect and patent ductus arteriosus being the most common malformations. Various other internal malformations including the Arnold-Chiari malformation were observed.

MeSH terms

  • Autopsy
  • Bone and Bones / pathology
  • Central Nervous System / pathology
  • Chromosome Aberrations / pathology*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 18*
  • Digestive System / pathology
  • Female
  • Heart Defects, Congenital / pathology
  • Humans
  • Infant
  • Infant, Newborn
  • Lung / pathology
  • Male
  • Trisomy*
  • Urogenital System / pathology