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Concept
Metaphyseal dysplasia
Summary
Metaphyseal dysplasia, or Pyle disease, is a disorder of the bones. It 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. Its hallmark feature is an abnormality of the long bones in the arms and legs in which the ends (metaphyses) of the bones are abnormally broad; the shape of the bones resembles a boat oar or paddle. The broad metaphyses are due to enlargement of the spongy inner layer of bone (trabecular bone). Although trabecular bone is expanded, the dense outermost layer of bone (cortical bone) is thinner than normal. As a result, the bones are fragile and fracture easily. The bone abnormalities in the legs commonly cause knock knees (genu valgum) in affected individuals.
Other bone abnormalities can also occur in Pyle disease. Affected individuals may have widened collar bones (clavicles), ribs, or bones in the fingers and hands. Dental problems are common in Pyle disease, including delayed appearance (eruption) of permanent teeth and misalignment of the top and bottom teeth (malocclusion).
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. Most patients with Pyle's diseases will have symptoms that vary from person to person. Symptoms are:
5%–29% of people have
Delated eruption of teeth
Other people may have
Abnormality of thorax
Absent paranasal sinuses
Arthralgia
Carious teeth
Genu valgum
Hypoplastic frontal sinuses
Limited elbow extension
Mandibular prognathia
Metaphyseal widening
Muscle weakness
Platyspondyly
Reduced bone mineral density
Scoliosis
Thickened calvaria
Pyle disease is caused by mutations in the SFRP4 gene.
Official source
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