Thumb Deformity And Alopecia

Chiba and Miura (1977, 1979) described a mother and son with hypoplastic thumbs and alopecia. Short stature was marked in the child and moderate in the mother; both were reported to be mentally retarded. Winter et al. (1988) reported a similar condition in 4 generations of a family. The affected members studied were a mother and 3 sons. A main distinguishing feature was the presence of a single central upper incisor (147250) in the mother and 1 son of the family reported by Winter et al. (1988). Mental retardation and marked short stature were not found in their family. In the family of Winter et al. (1988), the mother and 1 son showed increased pigmentation in the groin with areas of raindrop depigmentation. One son showed the same thing.