Osteogenesis imperfecta: questions and answers.

TitleOsteogenesis imperfecta: questions and answers.
Publication TypeJournal Article
Year of Publication2009
AuthorsShapiro JR, Sponsellor PD
JournalCurrent opinion in pediatrics
Date Published2009 Dec

Considerable attention has recently been focused on the pathogenesis, diagnosis and treatment of osteogenesis imperfecta. Two new genes have been defined in patients with recessive severe or lethal osteogenesis imperfecta types. Diagnostic concerns involve testing procedures, either skin biopsies or DNA analysis. Bisphosphonates have been accepted as 'standard of care' for children with osteogenesis imperfecta. However, questions remain as to the selection of patients for treatment, effectiveness in fracture prevention, which bisphosphonates should be used and the duration of treatment. Orthopedic intervention occurs on several levels: including the immediate treatment of fractures, the treatment of scoliosis and the use of intramedullary rods.

Alternate JournalCurr. Opin. Pediatr.