نتایج جستجو برای: osteogenesis imperfecta
تعداد نتایج: 17982 فیلتر نتایج به سال:
We report a postal survey of 59 families of children with osteogenesis imperfecta. From the 51 replies we collected data on developmental milestones and walking ability and related them to the Sillence and the Shapiro classifications of osteogenesis imperfecta. Twenty-four of the patients had been treated by intramedullary rodding. Both classifications helped to predict eventual walking ability...
Conclusion Despite a lower increase in z-score in our serie, the clinical efficacy is similar to other protocols. There is a tendency towards greater gain in Z-score as the annual dosage increases. References 1. Glorieux FH, et al.: Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. The New England Journal of Medicine 1998, 339:947-52. 2. Arikoski P, et al.: I...
S. |NIYOGI, m.b. (Cal.) Surgical Registrar,"Nilratan Sarkar Medical College Hospitals, Calcutta Osteogenesis imperfecta tarda is one variety a clinical syndrome which has been given various names such as fragilitas ossium, idiopathic osteopsathyrosis, periosteal dysplasia, etc. Thomson (1921) divided it into two broad clinical types?preand post-natal. Pre-natal cases are more severe and often t...
By the end of the recently completed Fourth International Conference on Osteogenesis Imperfecta (Pavia, Italy, 9-12 September 1990) more than 70 mutations in the two genes that encode the chains of type I collagen, the major protein of bone, had been identified as the molecular cause of different forms of osteogenesis imperfecta (OI). Although by no means complete, the set of mutations in hand ...
A 54 year old woman was admitted for cardiac catheterisation. She had-been attending the outpatient clinic since 1975, with regular review. She had diagnoses of type I osteogenesis imperfecta, and of supravalvular aortic stenosis. Osteogenesis imperfecta was diagnosed in early life on clinical grounds including the presence of blue sclerae and the occurrence of several bone fractures secondary ...
Osteogenesis imperfecta is caused by a genetic defect resulting in an abnormal type I collagen bone matrix which typically results in multiple fractures with little or no trauma. Bisphosphonates are used in an attempt to increase bone mineral density and reduce these fractures in people with osteogenesis imperfecta. This is an update of a previously published Cochrane Review. To assess the effe...
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