Exostoses With Anetodermia And Brachydactyly, Type E

Mollica et al. (1984) reported a kindred in which 6 persons had anetodermia (macular atrophy of the skin), 8 had multiple exostoses, and 2 had type E brachydactyly seemingly unrelated to exostoses. In all, 10 persons had 1 or more of these features. The authors suggested that this is an autosomal dominant syndrome. See 250450 for another skeletal disorder with anetodermia (or anetoderma).