The Wolf‐Hirschhorn syndrome

Abstract

Most cases of Wolf-Hirschhorn syndrome occurring among children who die during the perinatal period are not diagnosed by morphologists. Analysis of the morphological data on the Wolf-Hirshhorn syndrome reveals that association of typical external features and abnormalities of the brain (shortening of the H2 area of Ammon''s horn, dystopic 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.