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Mesomelia

Case contributed by Roberto Schubert
Diagnosis certain

Presentation

Deformity of the forearm, wrist, and elbow. Limited range of motion of these joints.

Patient Data

Age: 9 years
Gender: Male
ct

3D SSD reconstructions of an MSCT from the elbow to the fingertips. The ulna is markedly shortened and shows a budlike appearance of its distal end. The distal radio-ulnar joint is absent. There is also teratologic luxation of the radial head.

Case Discussion

Mesomelia, as opposed to acromelia (distal) and rhizomelia (proximal), refers to skeletal dysplasia of the middle part of an extremity, in this case, the forearm. There are several hereditary syndromes associated with mesomelic dysplasias, most of them also associated with general growth disturbances (dwarfism).

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