Autosomal dominant osteosclerosis.
Autosomal dominant osteosclerosis, an entity previously labelled by various names, is clearly separate from Van Buchem disease; Van Buchem disease exhibits autosomal recessive inheritance. The clinical manifestation of autosomal dominant osteosclerosis is a widened and deepened mandible with increased gonial angle. Radiographic manifestations include endosteal sclerosis of the neurocranium with loss of the diploë, osteosclerosis and hyperostosis of the mandible with absence of the normal antegonial notches, endosteal sclerosis of the diaphyses of long bones (including metacarpals and metatarsals), and osteosclerosis of the pelvis.
D002869:Chromosome Aberrations / Q000000981:diagnostic imaging / Q000235:genetics; D025063:Chromosome Disorders; D003937:Diagnosis, Differential; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D006958:Hyperostosis, Cortical, Congenital / Q000000981:diagnostic imaging; D008297:Male; D010026:Osteosclerosis / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D010744:Phosphoric Monoester Hydrolases / Q000097:blood; D011859:Radiography; D013577:Syndrome
D010744:Phosphoric Monoester Hydrolases