The clinical features of osteogenesis imperfecta in Vietnam

摘要: Osteogenesis imperfecta (OI) has not been studied in a Vietnamese population before. The aim of this study was to systematically collect epidemiological information, investigate clinical features and create database OI patients Vietnam for future research treatment strategy development. Participants underwent physical examinations; also medical records were reviewed. Genealogical information collected family members’ phenotypical manifestations recorded. Cases classified according the Sillence classification. In total, 146 from 120 families studied: 46 with Type I, III 54 IV. Almost had skeletal deformations. One hundred forty-two history fractures, 117 blue sclera, 89 dentinogenesis 26 hearing loss. total number fractures 1,932. Thirty-four intra-uterine nine perinatal fractures. Surgery performed 163 times 58 patients; 100 osteosyntheses 63 osteotomies. Bisphosphonate used 37 patients. affected individuals predominance severe forms indicate that disease is under diagnosed Vietnam, especially cases without or mild form OI. Deformities appeared all different severity localisation, affecting mostly lower limbs. surgical rates are low most surgery due Compared previous studies, our results prevalence greater symptoms when compared other areas. Further investigation, improved diagnosis needed increase patients’ quality life.