OSTEOGENESIS IMPERFECT: A CASE REPORT (Atena Editora)

Abstract

Osteogenesis imperfecta (OI), or brittle bone disease, is a rare skeletal dysplasia characterized by bone fragility, which results in multiple fractures, bone deformity and short stature. OI is a heterogeneous genetic disease, caused by mutations in genes involved in the production of an extra-cellular structural protein, related to collagen 1, which is the most important matrix of our bone framework. There are 4 types of the disease, among these, there is the severe form that is lethal in the perinatal period, while mild OI sometimes cannot be recognized until adulthood. Severe or lethal OI can usually be diagnosed through prenatal ultrasound and confirmed by imaging tests, such as CT scans, X-rays, among others, and genetic tests. The treatments currently available for the disease are only palliative, that is, they are not curative and individuals affected with severe OI can suffer multiple fractures and bone deformities throughout their lives. There are studies being carried out that perhaps, in the future, it may be possible to perform stem cell transplantation in utero, which could be a new therapeutic option for severe OI. The objective of this study was to describe a case of Osteogenesis imperfecta, not diagnosed in the prenatal period, in a city in the interior of the state of São Paulo.