Evolution of bone anomalies in 49,XXXXY syndrome

Long-term radiologic follow-up, from the age of 1 year to 27 and 28 years respectively, was performed for two patients with the XXXXY chromosome anomaly. The patients remained sexually immature; the major abnormality observed radiologically was delayed maturation of the skeleton, the growth plates persisting into adulthood. Early degeneration of the articular cartilage, particularly at the elbows, was observed, along with hypertrophy of the epiphyses and radiohumeral dislocation. One of the patients had intra-articular osteochondroma of the left elbow of unknown cause. Cerebral computed tomography showed enlargement of the lateral ventricles in both patients and the formation of pneumatic cavities in the parietal bones in one.