Osteogenesis imperfecta with unusual skeletal lesions: report of three families.
Thirteen individuals with osteogenesis imperfecta (OI) from three families were evaluated. All examined persons with OI had multilocular radiolucent, radiopaque, or radiolucent-radiopaque lesions of the maxilla and mandible. In most patients, the lesions involved the tooth bearing areas, but in two, the rami also were involved. Teeth were normal. Radiologic findings in the extragnathic skeleton included marked coarseness of trabeculae and diffuse osteopenia. It is proposed that these patients represent yet another dominantly inherited OI syndrome.
D000293:Adolescent; D000328:Adult; D000368:Aged; D001842:Bone and Bones / Q000473:pathology; D003804:Dentin / Q000473:pathology; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008297:Male; D008336:Mandibular Diseases / Q000000981:diagnostic imaging / Q000473:pathology; D008439:Maxillary Diseases / Q000000981:diagnostic imaging / Q000473:pathology; D008875:Middle Aged; D010013:Osteogenesis Imperfecta / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D011859:Radiography; D013577:Syndrome