Heterozygous SHOX haploinsufficiency causes phenotypes that range from isolated short stature to the complete picture of the Leri-Weill dyschondrosteosis (LWD), a skeletal dysplasia characterized by mesomelia and Madelung deformity (i.e. shortening and bowing of the radius with dorsal subluxation of the distal ulna) (19). This evidence concerns the gene SHOX and Leri-Weill dyschondrosteosis.