Osteogenesis imperfecta: current status and literature review

Osteogenesis imperfecta is a rare skeletal malformation, with an incidence of 1/15.000 - 20.000 births. Its main features are bone fragility and fractures, bone deformities, growth failure. Patients usually present with a host of symptoms: dental abnormalities, blue sclera of the eyes, hearing loss, reduced respiratory function and cardiovascular abnormalities. The severity of the disease varies from mild, which in some cases remains undiagnosed until adulthood, to extremely severe, which is fatal, already in the perinatal period. Timely prenatal diagnosis, initially made with the help of imaging methods, is particularly important for making decisions related to the outcome of the pregnancy. So far, drug treatments (e.g. bisphosphonates, teriparatide, denosumab) target the symptoms of the disease and are not particularly effective. The promising intrauterine mesenchymal stem cell transplantation seems to be the new therapeutic option in the near future.