Osteogenesis imperfecta (OI) is characterized by fractures with minimal or absent trauma, representing a continuum ranging from perinatal lethality through individuals with severe skeletal deformities to nearly asymptomatic individuals with mild predisposition to fractures. Diagnosis of OI is an interdisciplinary task based on family and/or patient history of fractures combined with characteristic physical findings. Radiographic examination reveals fractures of varying ages and stages of healing, wormian bones, and osteopenia. As there is no definitive test for OI, molecular genetic testing by next-generation sequencing (NGS) of COL1A1 and COL1A2 and up to 12 other genes is essential to confirm the genetic background.
