Broad Thumbs and Toes and Facial Abnormalities

Abstract

Although a large number of diseases, conditions, and syndromes associated with mental retardation have been described, it has been the discouraging experience of physicians dealing with retarded children that relatively few cases may be specifically classified or diagnosed despite intensive evaluations. Many of the children manifest facial peculiarities along with other physical findings and often resemble neither their parents nor their siblings. The clinician frequently has the feeling that the child should "fit into some syndrome"; however, each case usually presents an isolated and unique group of findings not resembling the picture seen in other retarded children who are evaluated. It was a rather unusual and exciting experience to find two unrelated children who seemed to resemble each other closely enough to make one wonder if they might not have the same "syndrome." After studying these two patients with their array of similar clinical findings, their reports and photographs were