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Journal of Bone and Joint Surgery, 1970;52:347-354.
© 1970 by The Journal of Bone and Joint Surgery, Inc

Pyle's Disease (Familial Metaphyseal Dysplasia)

A PRESENTATION OF TWO CASES AND ARGUMENT FOR ITS SEPARATION FROM CRANIOMETAPHYSEAL DYSPLASIA

ROBERT J. GORLIN D.D.S., M.S.1, MICHAEL F. KOSZALKA M.D.2, and JÜRGEN SPRANGER M.D.3

1 School of Dentistry, University of Minnesota, Minneapolis, Minnesota 55455
2 Veterans Administration Center, Fargo, North Dakota 58102
3 Pediatric Clinic, University of Kiel, Kiel, Germany

Case presentations are made of Pyle's disease in male siblings and fourteens reports of Pyle's disease from the literature are cited. The disease appears to be inherited

[See figure in the PDF file]

as an autosomal recessive trait. It is clearly distinguishable from craniometaphyseal dysplasia.


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