Osteogenesis Imperfecta Type I: Recognition in Primary Care

With a wide spectrum of severity, osteogenesis imperfecta (OI) is a connective tissue disease resulting in bone fragility. Approximately 25,000-50,000 Americans are afflicted with OI; 50% of these cases are classified as type I. Type I does not discriminate regarding ethnicity, race, or sex. The disease symptoms change across the life span and vary among patients; therefore, diagnosis is often missed. The aim of this article is to briefly explain etiology, clinical manifestations, common assessment findings, and recommended health promotion activities to recognize individuals with OI type I, thereby facilitating an early diagnosis and appropriate referrals.