A 6-year-old girl with type IV osteogenesis imperfecta (OI) was seen initially at the National Institutes of Health (NIH) at the age of 3 months. She was the product of an uncomplicated term pregnancy delivered by cesarean section. She weighed 2.4 kg at birth and was noted to have a soft skull. At 3 months of age she was noted to have a swollen right thigh, diagnosed as a femur fracture, and was treated with a hip spica cast for 6 weeks. When the radiograph was taken, an old healed left femur fracture was also seen. The diagnosis of OI was made at that time.On physical examination at the age of 3 months, she could lie prone, support her head, and lift all limbs against gravity. Her knee and ankle joints were lax, and her left femur was bowed 45°. Treatment was to encourage physical activity through
Marini JC, Gerber NL. Osteogenesis Imperfecta: Rehabilitation and Prospects for Gene Therapy. JAMA. 1997;277(9):746–750. doi:10.1001/jama.1997.03540330068037
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