Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood

In 1878, Madelung described a painful, disabling, and deforming abnormality of the forearm in which misalignment of the bones of the wrist and forearm resulted in a “spontaneous forward subluxation of the wrist”.1 A familial form of a bilateral wrist deformity resulting from dorsal dislocation of the ulnar head, accompanied by mesomelic short stature was first reported in 1929 and later termed Leri-Weill dyschondrosteosis (LWD).2–4 In LWD, the Madelung deformity results from dysplasia located at the medial aspect of the distal radial growth plate, where narrowing and premature fusion of the physis occurs.5 This dysplasia leads to differential growth rates between the lesion and the distal lateral radial physis impeding growth and pulling the lateral radial epiphysis off line as the remaining physis advances.6 In its fully developed form, Madelung deformity leads to shortening and bowing (sometimes marked) of the radius and the involvement of other epiphyses in this disorder results in mesomelia.7 Typically, Madelung deformity does not appear until mid-childhood but is usually preceded by radiological signs.8 Other localised lesions in the ulnar-palmar zone of the distal radius can result in differential growth rates leading to Madelung deformity including Turner, Olliers, and multiple exostoses syndromes and environmental causes.3,4,9 ### Key points