Leri-Weill syndrome (LWS) is a skeletal dysplasia with mesomelic short stature, bilateral Madelung deformity (BMD) and SHOX (short stature homeobox-containing gene) haploinsufficiency. The effect of 24 months of recombinant human growth hormone (rhGH) therapy on the stature and BMD of two females with SHOX haploinsufficiency (demonstrated by fluorescence in situ hybridisation) and LWS was evaluated. Both patients demonstrated an increase in height standard deviation score (SDS) and height velocity SDS over the 24 months of therapy. Patient 1 demonstrated a relative increase in arm-span and upper segment measurements with rhGH while patient 2 demonstrated a relative increase in lower limb length. There was appropriate advancement of bone age, no adverse events and no significant deterioration in BMD. In this study, 24 months of rhGH was a safe and effective therapy for the disproportionate short stature of SHOX haploinsufficiency, with no clinical deterioration of BMD.

This study was designed to determine the intrafamilial effect of SHOX haploinsufficiency on stature, by comparing the growth and phenotype of 26 SHOX haploinsufficient individuals with 45 relatives and population standards. It confirmed that SHOX haploinsufficiency leads to growth restriction from birth to final height. Compared to unaffected siblings, the SHOX haploinsufficient cohort was 2.14 SDS (3.8 cm) shorter at birth and 2.1 SDS shorter through childhood. At final height females were 2.4 SDS (14.4 cm) shorter and males 0.8 SDS (5.3 cm) shorter than normal siblings. The family height analysis suggests that the effect of SHOX haploinsufficiency on growth may have been previously underestimated at birth and overestimated in males at final height. SHOX haploinsufficiency leads to short arms in 92%, bilateral Madelung deformity in 73% and short stature in 54%. Females were more severely affected than males. We conclude that SHOX is a major growth gene and that mutations are associated with a broad range of phenotype.

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

Leri-Weill syndrome (LWS) is a dominant (pseudoautosomal) skeletal dysplasia with mesomelic short stature and bilateral Madelung deformity, due to dyschondrosteosis of the distal radius. It results from the loss of one copy of the Short Stature Homeobox Gene (SHOX) from the tip of the short arm of the X or Y chromosome. SHOX molecular testing enabled us to evaluate the histopathology of the radial physis in LWS patients with a documented SHOX abnormality. A widespread disorganisation of physeal anatomy was revealed with disruption of the normal parallel columnar arrangement of chondrocytes. Tandem stacking of maturing chondrocytes within columns was replaced by a side-by-side arrangement. The presence of hypertrophic osteoid with micro-enchondromata in the radial metaphysis suggests abnormal endochondral ossification. The Vickers' ligament was confirmed to blend with the triangular fibrocartilage complex (TFCC). This histopathological study demonstrates that the zone of dyschondrosteosis in LWS is characterised by marked disruption of normal physeal chondrocyte processes and that a generalised physeal abnormality is present.

Dance has been found to both enhance and undermine body image. Most of the literature has focused on ballet dancers and has neglected the role of identity as a dancer. This study assessed general and dance specific body image and dancer identity in 77 female modern dancers. Compared to samples of non-clinical college women, this sample had higher body appreciation and lower drive for thinness and self-objectification. White dancers in the sample also had positive levels of dancer body efficacy/acceptance whereas as non-White dancers had negative levels of this variable. Identity as a dancer was negatively correlated with body appreciation and dancer body perceptions and not related to the number of years of dance experience. Of general and dance specific body image, body appreciation emerged as the unique predictor. The findings warrant further research on positive body image, modern dancers, and identity.