Madelung's deformity is a bone dysplasia that occurs predominantly in adolescent females, characterized by early epiphyseal growth arrest in the medial part of the distal radius. This leads to an upward and medial displacement of the radial joint surface, restricting range of motion.

The objective of this study was to determine whether there was a link between clinical and radiological data in children with Madelung's deformity and to test the hypothesis of a relation between the deformity and a genetic mutation.

A retrospective study recruited 13 patients with Madelung's deformity, with a mean age of 13.2 years (range, 8–18 years). Assessment comprised level of pain, range of motion and grip force, with standard AP and lateral wrist X-rays. Every patient except one underwent molecular genetic screening, adhering to current recommendations.

Pronation-supination, radial inclination and grip force were significantly impaired compared to normal results. All X-ray measurements were significantly abnormal, except for the lunate-covering ratio. Genetic mutation (SHOX) was systematic in the 12 patients screened.

Radiological deformity did not correlate with functional disturbance or pain. Non-acquired Madelung's deformity requires molecular screening for SHOX or XO mutation, which definitively diagnoses Léri-Weill dyschondrosteosis or Turner syndrome.

A larger series is necessary to confirm these preliminary results, which nevertheless suggest that non-acquired Madelung's deformity is not isolated but syndromic. Early detection of Léri-Weill or Turner syndrome is essential, due to their therapeutic specificities.

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