Osteogenesis Imperfecta

These photographs of a woman and her daughter show the blue sclerae (white parts of the eye) that are classically seen in one type of osteogenesis imperfecta, which is also called "brittle bone disease." The mother had broken her hip when she was 3 years old, her elbow when she was 10 and her wrist when she was 13. She was 4'10" tall, had hearing loss and had lost most of her molar teeth. The daugher had broken her leg 3 times.

From Leidig-Bruckner G and Grauer A, New Engl J Med 339:966. 1998 Massachusetts Medical Society. Used with permission.

Osteogenesis Imperfecta is caused by a mutation in the gene for collagen. The disease is inherited as an autosomal dominant trait, which means persons with one mutation will have the disease and each of their children will have a 50% chance of getting the disease. In about one of five cases the patient's parents did not have the disease, these represent new mutations. The severity ranges from mild disease that can be mistaken for osteoporosis to very severe disease that is fatal to infants.
The xrays shown here are from an adult who has a seveve form of osteogenesis imperfecta and has experienced hundreds of fractures. The upper xray is of the femur and hip, and the lower xray shows the tibia and foot. The legs are short and deformed, with many old and new fractures. A surgical rod in is the leg to stabilize the bone.
Patients have normal intelligence. They are often short, may have hearing problems or abnormal teeth. If the bone disease is very severe, infants die because the ribs can't support the lungs. Sometimes infants have so many fractures that the parents are accused of child abuse.
Osteogenesis imperfecta usually improves after puberty. In women, fractures start to increase again after menopause. This suggests that bones in patients with osteogenesis imperfecta are sensitive to estrogen.

. . . about osteogenesis imperfecta

2004 by Susan Ott
Last update 8/18/04

Back to Diseases