Common Bone Dysplasias and Malformations

Multiple epiphyseal dysplasia (MED) is characterized by the disturbance of enchondral ossification involving numerous epiphyses. MED is usually transmitted in an autosomal dominant manner, although autosomal recessive transmission has also been reported. Different levels of deformities may be present in one patient. Usually lower extremity joint pain with decreased range of motions and limping are the main complaints. Dominantly hips, knees, and ankles are affected. Irregular, fragmented epiphyses and flat articular surfaces with normal metaphyses and mild shortening of the tubular bones can be observed. Upper extremity involvement may differ from minimal to severe with significant deformities (Figs. 1.1–1.8).