The Wolf-Hirschhorn syndrome. II. Pathologic anatomy

Clin Genet. 1980 Jul;18(1):6-12. doi: 10.1111/j.1399-0004.1980.tb01357.x.


Most cases of Wolf-Hirschhorn syndrome occurring among children who die during the perinatal period are not diagnosed by morphologists. However, analysis of the morphological data on the Wolf-Hirschhorn syndrome revels that association of typical external features and abnormalities ofthe brain (shortening of the H2 area of Ammon's horn, dystonic dysplastic gyrae in the cerebellum), eyes (colobomata, microphthalmos, retinal dysplasia) and kidneys (bilateral or unilateral agenesis, cystic dysplasia or polycystosis) with diaphragmatic hernia allows the establishment of a diagnosis of the syndrome without cytogenetic investigation.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / pathology
  • Chromosome Aberrations / pathology*
  • Chromosome Disorders
  • Chromosomes, Human, 4-5*
  • Female
  • Humans
  • Infant, Newborn
  • Syndrome