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Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia): morphological findings in the growth plate of the iliac crest.

Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia) (SM) has clinical and radiographic findings similar to those of Dyggve-Melchior-Clausen syndrome (DMC) except for mental retardation. Iliac crest biopsies from two patients with SM were examined. The lace-like appearance of the iliac crests, which is a characteristic radiological sign of SM and DMC, was caused by bone tissue deposited in a wavy pattern at the osteochondral junction. The growth plate showed abnormal enchondral ossification with no columnarization of chondrocytes. Electron microscopy demonstrated chondrocytes with dilated cisternae of rough endoplasmic reticulum containing fine granular or amorphous material, similar to those reported in cases of DMC. Thus, SM has pathologic changes in common with DMC as a rough endoplasmic reticulum storage disorder, even though the mental condition is different.