Osteogenesis imperfecta

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Pectus excavatum

Brittle bone disease

In a person with OI, all bones are weak. How this affects the person varies greatly. For example, babies with type 2 OI rarely survive, yet type 1 OI may be so mild that the disease never produces symptoms.

Although their bones are fragile, not everyone with OI breaks a bone. Some people with OI also lose their hearing early in life. The whites of their eyes may have a blue tint (blue sclerae). Other symptoms can include:

Bone fracture (broken bone)

More than one broken bone at a time

Fractures present at birth

Occurring after only minor trauma

• Deformed or short legs or arms
• Deafness
• Kyphosis (S-curve spine)
• Kyphoscoliosis (humped spine)
• Short stature
• Abnormal teeth
• Low nasal bridge
• Pectus carinatum (rounded, protruding chest)
• Pectus excavatum (hollow chest)
• Flat feet
• Loose joints or hypermobility
• Easy bruising
• Bowed legs

A physical examination may confirm fractures, deformities, and other symptoms.

Bone x-rays may show many healed fractures.

The diagnosis of OI is made by collagen studies done on a skin punch biopsy. Family members may be given a DNA blood test. Pregnant women may have a DNA test done using prenatal chorionic villus samples (CVS) to diagnose the baby before it is born.

Severe OI can be seen on ultrasound when the fetus is as young as 16 weeks.

Review Date: 09/07/2006
Reviewed By: Benjamin W. Van Voorhees, M.D., MPH, Assistant Professor of Medicine and Pediatrics, The University of Chicago, Chicago, IL. Review provided by VeriMed Healthcare Network.