Osteogenesis Imperfecta (OI) is a rare inherited connective tissue disorder characterized by
bone fragility and recurrent fractures. The condition results from abnormalities in type I
collagen, which is essential for bone strength and connective tissue integrity.
OI occurs in approximately 1 in 20,000 births worldwide and can vary from mild forms to
severe life-threatening disease. One of the most recognizable clinical signs is blue sclera, which
results from thinning of the scleral collagen allowing the underlying choroid to become visible.
This case report describes a 7-year-old girl with recurrent fractures and blue sclera, highlighting
the importance of early recognition of Osteogenesis Imperfecta.