Megaepiphyseal Dwarfism

Gorlin et al. (1973) described a seemingly 'new' syndrome in a 9-year-old boy who may have been the product of father-daughter incest. Unusual facies consisted of snub nose, epicanthal folds, and cleft palate. These findings and large joints were evident from birth. The prominence of almost all joints was progressive. Inferior subluxation of both lenses was found at age 9 years and this could be accounted for by the finding of homocystinuria. However, the authors concluded that the child had another recessive disorder resulting from the parental consanguinity.