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March 5, 1997

Osteogenesis Imperfecta: Rehabilitation and Prospects for Gene Therapy

Author Affiliations

From the Heritable Disorders Branch, National Institute of Child Health and Human Development (Dr Marini) and the Rehabilitation Medicine Department, Warren Grant Magnuson Clinical Center (Dr Gerber), National Institutes of Health, Bethesda, Md.

JAMA. 1997;277(9):746-750. doi:10.1001/jama.1997.03540330068037

SELECTED CASE  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

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