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The characteristic deformity of diastrophic dwarfism is the "hitchhikers" thumb, illustrated here. The first digit is widely adbucted relative to the remainder of the digits. Over the first few months of life, progressive subluxation occurs at the major joints including the hands, feet, spine, elbows, and spine.
The first metacarpal also tends to be hypoplastic relative to the others and the distal metaphyses of the remaining metacarpals are flared. Characteristically, too many ossification centers are observed within the carpus.