A Case of Type I Osteogenesis Imperfecta Differentially Diagnosed as a Cause of a Spinal Compression Fracture

Osteogenesis imperfecta (OI) is a genetic disease that is caused by a synthetic anomaly of type I collagen. It is characterized by such features as low bone density, multiple fractures, bone deformities and chronic bone pain. According to the hereditary pattern and degree of phenotypical expression, it also has various extraskeletal manifestations such as blue sclera, hearing deformities and dentinogenesis imperfecta. Recently, an expanded seven subgroup classification of OI has been suggested by means of its clinical severity and mutational characteristics. However, most of the OI cases reported in Korea have been classified as type II or III that can be diagnosed easily and present with severe clinical manifestations. Only rare type I OI cases have been currently reported in Korea. Herein, we report a case of type I OI that was differentially diagnosed as a cause of a spinal compression fracture. (J Kor Endocr Soc 22:446~452, 2007)