Zebra of the Week: Osteogenesis imperfecta type 1

Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. Osteogenesis imperfecta type 1, the mildest form of OI, is characterized by bone fractures in childhood and adolescence that often result from minor trauma. Genetic changes in the COL1A1 gene reduce the amount of type I collagen produced in the body, causing bones to fracture easily. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the sclerae and may develop hearing loss in adulthood.