Imperfect Osteogenesis: an imaging description of the disease

Abstract

Osteogenesis Imperfecta, considered a rare disease, is a genetic disorder that mainly affects bone mass, causing fragility and deformities. It is also often accompanied by neurosensory hearing loss, blue sclerae, dentinogenesis imperfecta and joint hypermobility. For its diagnosis, the classification according to Sillence is used, based on the clinical picture, radiological findings and type of inheritance. Radiology is essential, both in the diagnosis and follow-up of this disease. Its main radiographic characteristics are osteopenia, fractures and bone deformities. Other characteristics may be secondary to pharmacological or surgical treatment, such as metaphyseal bands due to bisphosphonate treatment or the presence of intramedullary nails. Each imaging examination allows the collection of different signs that help diagnose the disease and classify it, in order to obtain a differential diagnosis and treatment. For this reason, the objective of this review article is to describe the imaging methods for diagnosis of Osteogenesis Imperfecta according to its classifications main findings.