ORTHOPEDIC CASES /MULTIPLE EPIPHYSEAL DYSPLASIA

Skeletal Dysplasias with Predominantly Epiphyseal Involvement

1. Multiple Epiphyseal Dysplasia

    

   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).

    Fig. 1.1 Normal or moderately short height with normal proportions

    

    

    

   
   Fig. 1.2 Severely affected right hip with fragmentation of the epiphysis andflattening joint surfaces

2. 

   Fig. 1.3 Normally developed knee joint with fragmentation and moderate deformity of the patella

    

    

    

    

   Fig. 1.4 Fingers are equally shortened

    

   
   Fig. 1.5 Toes are variably shortened

   

   Fig. 1.6 Irregular proximal humeral epiphysis with large, flat articular surface

   Fig. 1.7 Bilateral irregular distal humeral epiphyses with deformity of the trochlea

    

    

    

   Fig. 1.8 The short tubular bones

   of the hand are shortened without any significant deformity