Generalized Cortical Hyperostosis (Van Buchem Disease): Nosologic Considerations
- 1 November 1977
- journal article
- research article
- Published by Radiological Society of North America (RSNA) in Radiology
- Vol. 125 (2) , 297-304
- https://doi.org/10.1148/125.2.297
Abstract
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 a clinical case, 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.This publication has 1 reference indexed in Scilit:
- Albers-Schönberg Disease—A Family SurveyRadiology, 1946