Autosomal dominant osteosclerosis.
Two cases of a craniotubular hyperostosis are presented. The radiographic features closely resemble Van Buchem disease (hyperostosis corticalis generalisata; endosteal hyperostosis, recessive type), including symmetrical and bilateral diaphyseal cortical thickening of the long and short tubular bones as well as sclerosis and thickening of the calvaria, mandible, shoulder and pelvic girdles, and thoracic cage. Unlike Van Buchem disease, no periosteal excresences are observed, alkaline phosphatase is normal, no basal foramina encroachment of the skull is present, and the genetic pattern is dominant inheritance. These cases possibly represent a separate disorder rather than a variant of Van Buchem disease.
D000328:Adult; D003966:Camurati-Engelmann Syndrome / Q000000981:diagnostic imaging; D002869:Chromosome Aberrations / Q000000981:diagnostic imaging / Q000235:genetics; D025063:Chromosome Disorders; D003937:Diagnosis, Differential; D005096:Exostoses / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D006958:Hyperostosis, Cortical, Congenital / Q000000981:diagnostic imaging / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010001:Osteitis Deformans / Q000000981:diagnostic imaging; D010022:Osteopetrosis / Q000000981:diagnostic imaging; D010026:Osteosclerosis / Q000000981:diagnostic imaging / Q000235:genetics*; D010744:Phosphoric Monoester Hydrolases / Q000097:blood; D055728:Primary Myelofibrosis / Q000000981:diagnostic imaging; D011859:Radiography; D012886:Skull / Q000000981:diagnostic imaging; D013577:Syndrome
D010744:Phosphoric Monoester Hydrolases