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Radiology, Vol 125, 297-304, Copyright © 1977 by Radiological Society of North America

ARTICLES

Generalized cortical hyperostosis (Van Buchem disease): nosologic considerations

JR Eastman and D Bixler

Six of 41 presumed cases of Van Buchem disease described in the literature fit uniform diagnostic criteria. Segregation analysis of these 6 cases, in addition to another the authors report, supports a recessive mode of inheritance. Genetic heterogeneity is confirmed by the demonstration of a dominantly-inherited phenotype resembling Van Buchem disease. The probable etiology is a defect in the endochrondral modulatory step regulating transformation of osteoclast to osteoblast.




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RADIOLOGY RADIOGRAPHICS RSNA JOURNALS ONLINE
Copyright © 1977 by the Radiological Society of North America.