Bhadada, S KSantosh, RBhansali, AUpreti, VDutta, P2012-11-302012-11-302009-01Bhadada S K, Santosh R, Bhansali A, Upreti V, Dutta P. Osteogenesis imperfecta. Journal of the Association of Physicians of India. 2009 Jan; 57(): 33-36.http://imsear.searo.who.int/handle/123456789/143511Background: Osteogenesis imperfecta (OI) is a rare metabolic bone disorder characterized by increased bone fragility, low bone mass, recurrent fractures and numerous extra-osseus features. Many patients remain undiagnosed and unattended particularly in developed countries. Presently, medical management with bisphosphonates has changed the scenario. Materials and Methods: Twenty consecutive patients of OI were enrolled over a period of four years. Their clinical features, radiology, and biochemical parameters and treatment outcome were analysed. Results: Of the 20 patients, 16 (80%) were male and 4 (20%) were female. Mean age (SD) of the patients was 20.8 (13.8) years. All the patients had presented with fractures, the number of fractures per person varying from 1 to 20. Long bones were predominantly involved and thirteen (65%) had deformities of long bones. Ten (50%) had a positive family history of fractures after trivial traum. Eleven (55%) patients had dentiginous imperfecta (DI) and ten (50%) had blue sclerae at presentation. Impaired hearing was present in 1 patient only. Calcium profile was normal. Nine patients received pamidronate. Fracture frequency and pain decreased remarkably in these patients. Conclusion: Patients with OI presented late, predominantly with fracture of long bones, deformities and blue sclerae. Pamidronate therapy remarkably decreased fractures and pain in these patients. ©enAdolescentAdultBone DensityBone Density Conservation Agents --therapeutic useChildChild, PreschoolDiphosphonates --therapeutic useFemaleFractures, Bone --diagnosisFractures, Bone --drug therapyFractures, Bone --etiologyHumansIndia --epidemiologyMaleOsteogenesis Imperfecta --complicationsOsteogenesis Imperfecta --diagnosisOsteogenesis Imperfecta --drug therapyOsteogenesis Imperfecta --epidemiologyTreatment OutcomeYoung AdultArticle