A rare congenital syndrome of universal metaphyseal dysplasia affecting both sexes. It is characterised by genua valga, occasional joint pain, muscular weakness, mild scoliosis, limited elbow extension, malocclusion, and increased tendency to fractures. Major x-ray findings include hyperostosis of the cranial vault; obtuse mandibular angle, mandibular prognathism; expansion of the ribs, clavicles, and pubic and ischial bones; metaphyseal flare of the tubular bones, extending into the diaphysis; and Erlenmeyer flask like appearance of the diaphyses in the femur and tibia. No growth retardation or mental deficiency. Inheritance is autosomal recessive.
According to one author, the term Pyle's disease should be limited exclusively to forms not affecting the bones of the cranium. If these, too, are affected, the correct term is dysplasia craniometaphysealis, which may be autosomal dominant or recessive.
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