RESUMO
Knowledge of the natural history of different types of OI permits planning of rehabilitation goals for children with OI. Notwithstanding this knowledge, rehabilitation will need to be modified to accommodate unexpected fractures and the highly variable chance of deformity in each individual. Immobilisation should be minimized to avoid immobilization osteoporosis. New rehabilitation issues include basilar impression, recommencement of fractures in postmenopausal women with OI, pregnancy related bone loss and sleep apnoea.
Assuntos
Osso e Ossos/metabolismo , Osso e Ossos/fisiopatologia , Colágeno Tipo I/deficiência , Osteogênese Imperfeita/fisiopatologia , Osteogênese Imperfeita/reabilitação , Doenças Ósseas Metabólicas/diagnóstico , Doenças Ósseas Metabólicas/genética , Doenças Ósseas Metabólicas/fisiopatologia , Osso e Ossos/patologia , Criança , Pré-Escolar , Colágeno Tipo I/genética , Fraturas Ósseas/fisiopatologia , Fraturas Ósseas/prevenção & controle , Fraturas Ósseas/terapia , Humanos , Lactente , Recém-Nascido , Mutação/genética , Osteogênese Imperfeita/patologia , Educação Física e Treinamento/normas , Modalidades de Fisioterapia/normasRESUMO
Visual screening tests were done on 61 individuals with various types of genetic skeletal dysplasias to determine which, if any, refractive errors are associated with each type. In individuals with achondroplasia, refractive error distribution was approximately that expected from its distribution in the general population. However, there was a significantly higher than expected frequency of strabismus in achondroplasts. A tendency to myopia was noted in diastrophic dysplasia and in those individuals with spondyloepiphyseal dysplasia.
