Epidemiological profile of patients with osteogenesis imperfecta assisted at a reference children's hospital in Brazil

Objective: To characterize the profile and care of patients with osteogenesis imperfecta (OI) treated at a reference hospital in southern Brazil. Method: This retrospective cross-sectional observational study analyzed secondary data from electronic medical records between 2010 and 2021. Data from patients aged 0–22 years with a confirmed OI diagnosis who underwent care at a reference hospital. Results: 97 medical records were included. The mean age of the children was 11 ± 4.99 years, with a prevalence of males (51.8%). Most obtained the postnatal diagnosis and were classified as type I (50.9%). The number of fractures, orthopedic surgeries, and cycles of pamidronate were higher in type III subjects. As for access to medication, 88.54% were hospitalized for the administration of pamidronate and 32.29% for zoledronate. Independent walking and type I modified independent walking (walker) and type IV, and the use of a wheelchair and type III had an association (X2 = 67.832; p=0.000) between them. Conclusions: The profiles of the individuals in this study reflect the characteristics of the classic division of types I to IV. The reference center offers multidisciplinary care, access to specific drugs, and essential orthopedic surgeries to improve the quality of life of patients with osteogenesis imperfecta.