Osteogenesis imperfecta. Review of the literature with presentation of 29 cases.
Twelve families with 29 patients showing various patterns of osteogenesis imperfecta are described, along with the genetic, pathological, and clinical features. No abnormal blochemical features were found. It has been shown that the best treatment is prophylactic (such as intramedullary nailingy or supportive. There was no remarkable improvement from any form of medical treatment. These data are compared to those of other authors.
D000293:Adolescent; D000328:Adult; D000368:Aged; D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000473:pathology; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003811:Dentinogenesis Imperfecta / Q000209:etiology; D005260:Female; D005598:Fractures, Spontaneous / Q000209:etiology; D005799:Genes, Dominant; D005808:Genes, Recessive; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010013:Osteogenesis Imperfecta / Q000145:classification / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics* / Q000628:therapy; D010024:Osteoporosis / Q000000981:diagnostic imaging / Q000209:etiology; D010375:Pedigree; D013902:Radiography, Thoracic; D012886:Skull / Q000000981:diagnostic imaging; D013131:Spine / Q000000981:diagnostic imaging