Radiograph at autopsy demonstrating marked disorganization of the vertebral bodies. See text for further description of bony deformities. Radiographic find ings at autopsy demonstrated marked vertebral disorganization, short humeri, and femurs with splayed metaphyses. Usually present is the finding of hydroureter. Aleck 2 and others have des cribed the less severe, although ultimately fatal form of dysseg mental dysplasia known as the Rolland-Desbuquois variety.
Most affected infants survive the neonatal period, but succumb by the age of three years.
This variety of the disease has not yet been described in the Hispanic population. The differential diagnosis includes fibrochondrogenesis, chon dro dysplasia punctata and Weissenbacher-Zweymuller syndrome. The short limbs noted in fibro chondrogenesis are in a proximal or rhizomelic pattern. This is in contrast to dyssegmental dysplasia which is characterized by mi cromelia or disproportionate shortening of the entire extremity. Chondrodysplasia punctata is typified by vertebral bodies with coronal clefts, metaphyseal splaying and stippled epiphyses.