Four Cases of Multiple Epiphyseal Dysplasia in One Family / 대한정형외과학회잡지

ABSTRACT

The clinical entity of Dysplasia Epiphyseal Multiplex was first descrihed by Fairbank in 1935, characterized by the disturbance of endochondral ossification in hoth epiphyseal centers and regions of physeal growth. It manifests itself radiologically as late appearance and mottling of the ossification centers and clinically as short stature, stubby digits and painful stiffness of multiple joints. It is typically transmitted as an autosomal dominant trait though recessive forms have been described. The spine is normal apart from a mild increased lumbar lordosis. Many patients are referred to an orthopaedic surgeon for bilateral Perthes disease, as was one of the authors cases. This Paper reports four cases of multiple epiphyseal dysplasia which affected one family.