ABSTRACT

Osteogenesis imperfecta (OI) is a connective tissue disease that develops from structural or synthesis defect of type-1 collagen, and it appears in children as osteoporosis and related fragility, blush, erythema and other deformities. The current study investigates a type-II OI case with intrauterine multiple fractures, acute connective tissue fragileness and breathing problems. Since type-II OI has no cure, early detection with prenatal diagnosis would be the best approach to the problem.