One condition frequently mistaken for child abuse is Osteogenesis Imperfecta (OI), also known as brittle bone disease. OI is a genetic disorder that causes bones to be extremely fragile, leading to frequent fractures with little or even no obvious cause. Due to the unexplained fractures and potential bruising, OI cases can be misidentified as physical abuse, particularly in young children who aren’t able to explain their injuries.
To distinguish between OI and abuse, doctors rely on several key factors. A thorough medical history can reveal a family pattern of easy fractures, suggesting a genetic cause. Physical exams might identify signs like blue-tinted eyes, hearing loss, or dental problems, all associated with OI. X-rays can show classic OI features like multiple fractures at different healing stages or thin, misshapen bones. Bone density scans may reveal unusually low bone mass. Finally, genetic testing offers the most definitive way to diagnose OI by identifying mutations in genes that affect collagen production.
Understanding OI and employing these diagnostic tools is essential. It ensures children with OI receive the treatment they need while protecting them from unnecessary and harmful child protection investigations.
NIAMSD. (2023). Osteogenesis imperfecta. Retrieved from https://www.niams.nih.gov/health-topics/osteogenesis-imperfecta