Spondyloepiphyseal dysplasia congenita. A comparative study of chondrocytic inclusions.

Spondyloepiphyseal dysplasia congenita is a short-trunk chondrodysplasia trait. The abnormalities are present at birth and involve primarily the spine, the epiphyses of long bones, and the pelvis. Postmortem examinations of two 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-positive cytoplasmic inclusions after diastase digestion to eliminate glycogen. Ultrastructural examination of the inclusions in one patient showed them to be accumulations of finely granular material in dilated cisterns of rough endoplasmic reticulum. To our knowledge, similar findings have been seen only in three other types of chondrodysplasia. The inclusions, which therefore are of diagnostic importance, may be of importance also in reflecting the primary metabolic abnormality.