Osteogenesis Imperfecta also known as "brittle bone disease" is a genetic disorder due to defective synthesis of type I collagen with generalized involvement of the bones, teeth, ligaments, sclerae and skin. Clinical features include propensity to fracture, generally after minor trauma, the skin is thin and somewhat loose and the joints are hypermobile. These patients can also present grey or blue sclera and crumbling teeth (dentinogenesis imperfecta). Here we have a sample of the blue sclera in this patient.
