Familial absence of middle phalanges with nail dysplasia: a new syndrome

A family in which four generations have had a unique and heretofore undescribed form of brachymesodactyly and nail dysplasia is reported. The disorder is characterized by brachydactyly, hypoplastic finger and second toe nails, absent middle phalanges in the fingers and lateral four toes, duplicated distal phalanges of the thumbs, and possible hypoplasia of the auricular cartilage. It is transmitted by an autosomal dominant pattern.