SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA - A COMPARATIVE-STUDY OF CHONDROCYTIC INCLUSIONS

  • 1 January 1980
    • journal article
    • research article
    • Vol. 104  (4) , 208-211
Abstract
Spondyloepiphyseal dysplasia congenita is a short-trunk chondrodysplasia transmitted as an autosomal dominant trait. The abnormalities are present at birth and involve primarily the spine, the epiphyses of long bones and the pelvis. Postmortem examinations of 2 patients with this disease who died shortly after birth showed a mild disorganization of chondrocytic columnization in the physeal growth zone. The chondrocytes contained PAS[periodic acid-Schiff]-positive cytoplasmic inclusions after diastase digestion to eliminate glycogen. Ultrastructural examination of the inclusions in 1 patient showed them to be accumulations of finely granular material in dilated cisterns of rough endoplasmic reticulum. Similar findings are seen only in 3 other types of chondrodysplasia. The inclusions, which are of diagnostic importance, may be important in reflecting the primary metabolic abnormality.

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