Metaphyseal dysplasia

Case contributed by Jeremy Jones
Diagnosis almost certain

Presentation

Known metaphyseal dysplasia (previous skeletal survey). Hip surveillance.

Patient Data

Age: 6 years
Gender: Female
x-ray

Abnormal proximal femora. There is marked coxa vara with abnormally angulated physes. The epiphyses themselves are normal. There is minor sclerosis of the femoral metaphyses.

Previous HKA @ 2 years

x-ray

Hips, knees and ankles (HKA) from 2 years of age. This was initially performed because of significant genu varum.

There is abnormality centred on all the metaphyses of the tubular bones. They are broad and irregular, and there is increased sclerosis. A bony abnormality centred on the metaphyses of multiple bones, which is bilateral and symmetrical, makes skeletal dysplasia likely. The most likely in this scenario is metaphyseal dysplasia.

Previous HKA @ 4 years

x-ray

The HKA at four years of age demonstrates similar findings to that at age 2, although the degree of genu varum has decreased. There remains widespread metaphyseal abnormality with broad, irregular and sclerotic metaphyses.

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