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Metaphyseal dysplasia

Dr Jeremy Jones et al.

Metaphyseal dysplasia (also known as Pyle disease) is a rare autosomal recessive disorder characterised by flaring of the ends of long bones with relative constriction and sclerosis of the diaphysis and mild cranial sclerosis. It is one of the causes of an Erlenmeyer flask deformity. The flared metaphases are relatively lucent.

The patients are often asymptomatic although genu valgus deformity may be a feature.

Where there is cranial involvement, it is termed craniometaphyseal dysplasia.

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