Generalized cortical hyperostosis (Van Buchem disease): nosologic considerations.
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.
D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D006958:Hyperostosis, Cortical, Congenital / Q000145:classification* / Q000000981:diagnostic imaging / Q000235:genetics; D010375:Pedigree; D010744:Phosphoric Monoester Hydrolases / Q000097:blood*; D011859:Radiography; D013577:Syndrome
D010744:Phosphoric Monoester Hydrolases