Understanding Multiple Epiphyseal Dysplasia: Orthopedic Cases

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).

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--- Fig. 1.1 Normal or moderately short height with normal proportions

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Fig. 1.2 Severely affected right hip with fragmentation of the epiphysis andflattening joint surfaces 2.

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

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Fig. 1.4 Fingers are equally shortened

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Fig. 1.5 Toes are variably shortened

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

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

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--- Fig. 1.8 The short tubular bones
of the hand are shortened without any significant deformity