Clinical and radiological features of chondroectodermal dysplasia.

This report documents the presence of chondroectodermal dysplasia in southwestern Saudi Arabia by describing the clinical and radiological features in three patients from two families. Mesomelic dwarfism, characteristic orodental manifestations, small thorax, nail hypoplasia and polydactyly of the hands were seen in all cases. Two patients had atrial septal defect; the third patient, who died, had an undefined cardiac anomaly with congestive heart failure. In addition to the typical radiological features, variations such as anterior scalloping of dor-solumbar vertebrae, syntarsaly and polydactyly of feet with separate unfused metatarsals were seen in one patient each. The combination of ectodermal and mesodermal anomalies permits early recognition of the sydnrome.