pediatrics
Craniotubular Dysplasias
Metaphyseal dysplasia (Pyle disease)
This rare, Autosomal Recessive is caused by defects in the Metaphyseal dysplasia is often confused semantically with Craniometaphyseal dysplasia . Affected people are clinically normal, apart from Genu Varum (Bowlegs) and Genu Valgum (Knock-Knees) , although The diagnosis of metaphyseal dysplasia is usually made when x-rays are done for an unrelated reason. X-ray changes are striking. Long bones are undermodeled, and bony cortices are generally thin. Tubular leg bones have gross Erlenmeyer flask flaring, particularly in the distal femur. Pelvic bones and thoracic cage are expanded. However, the skull is esentially spared. Treatment of metaphyseal dysplasia is often not necessary but may involve orthodontic treatments for dental malformations or orthopedic surgery for clinically significant skeletal deformities. 