Multiple Epiphyseal Dysplasia: A Clinical and Molecular Genetic Study

textabstractMultiple epiphyseal dysplasia (MED) is one of the most common osteochondrodysplasias [Wynne-Davies and Gormley 1985]. During childhood and adolescence it affects the epiphyses of the tubular bones, resulting in axial deformities and shorter limbs.·Later in life MED can lead to osteoarthritis. The disease has been given its name by Sir Thomas Fairbank in 1947 [Fairbank 1947]. The diagnosis is based on physical examination and radiological survey. Radiographic abnonnalities appear after the third year of life. The most important finding is the delay and irregularity of ossification of the involved epiphyses. The epiphyses of all long bones can be affected. Radiographic anthropometric studies have been performed, being of value in early diagnosis of lvfED in case of doubt [Poznanski et al. 1972, lngram 1992]. The disease is inherited and affects both sexes. The type of inheritance is autosomal dominant. Histology of cartilage of patients with MED reveals paucity of chondrocytes in all zones of the growth plate as well as loss of orientation of the chondrocytes [Anderson et a1. 1962]. These changes, however, are similar to those seen in other osteochondrodysplasias. Electron microscopical studies have shown dilations of rough endoplasmic reticulum containing a material with alternately wide electron dense and electron lucent layers [Stanescu et al. 1993]. Treatment is symptomatic. Tn case of limited range of motion physical therapy and nonsteroidal anti-inflammatory drugs may be prescribed; in case of axial deformities osteotomies can be performed (Chapler 1