Osteogenesis Imperfecta
Rehabilitation and Prospects for Gene Therapy
- Joan C. Marini, MD, PhD;
- Naomi Lynn Gerber, MD
Since this article does not have an abstract, we have provided the first 150 words of the full text.
Excerpt
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
Footnotes
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Reprints: Joan C. Marini, MD, PhD, Heritable Disorders Branch, National Institute of Child Health and Human Development, Bldg 10, Rm 9s241, Bethesda, MD 20892-1830.
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Grand Rounds at the Clinical Center of the National Institutes of Health section editors: John I. Gallin, MD, the Clinical Center of the National Institutes of Health, Bethesda, Md; David S. Cooper, MD, Contributing Editor, JAMA.
