Metaphyseal dysplasia

Metaphyseal dysplasia, also known as Pyle's disease,^[1] Pyle's syndrome, Pyle-Cohn syndrome, and Bakwin-Krida syndrome^[2] is a rare disease in which the outer part of the shafts of long bones is thinner than normal and there is an increased chance of fractures.

Clinical features

It is an autosomal recessive disorder in which mild clinical manifestations contrast with radiological appearances of gross metaphyseal undermodeling. Most patients present with mild genu valgum. The elbows are unable to extend fully. There may be widening of the lower femora and clavicles. Bones can sometimes be fragile, but fracturing is usually not common. Patients may present with dental caries, mandibular prognathism, spinal alignment, and disproportionate limb lengthening. Mental development, physical development, and height are usually normal.^[3]

Misdiagnosis

Pyle disease may be confused with craniometaphyseal dysplasia. The two, however, are clinically, radiographically, and genetically distinct from one another.^[4]

Treatment

People with Pyle disease are often asymptomatic. Dental anomalies may require orthodontic interventions. Skeletal anomalies may require orthopedic surgery.^[5]

References