Spondylo-epiphyso-metaphyseal dysplasia: An atypical variant

In a 12 years, 10 months-old-girl with severe nanism we observed bone changes of unusual spondylo-epimetaphyseal dysplasia (S.E.M.D.). The metaphyseal and epiphyseal changes in the long bones were symmetrical and mostly rhizomelic—with the involvement of the iliac bones, tarsal bones with irregular lesions and disproportionally long fibulae; these changes confirm the heterogeneity of the disease.