Pyle's disease (familial metaphyseal dysplasia) . A presentation of two cases and argument for its separation from craniometaphyseal dysplasia
Gorlin, R.J.; Koszalka, M.F.; Spranger, J.
Journal of Bone and Joint Surgery. American Volume 52(2): 347-354
1970
ISSN/ISBN: 0021-9355 PMID: 5440013 Document Number: 5678
Case presentations are made of Pyle's disease in male siblings and fourteen reports of Pyle's disease from the literature are cited. The disease appears to be inherited as an autosomal recessive trait. It is clearly distinguishable from cranio-metaphyseal dysplasia.
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