Osteogenesis imperfecta

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Pectus excavatum

Osteogenesis imperfecta

Alternative Names:

Brittle bone disease
Symptoms:

All of the bones are abnormally weak in a person with OI. The severity of the abnormality varies enormously -- from type 2 OI, which is usually lethal in infancy (or even before birth) to type 1 OI, which may be so mild that the diagnosis is not made, even in adulthood.

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The three classic symptoms of OI includes fragile bones, early hearing loss, and whites of the eyes that appear bluish (blue sclerae). Nevertheless, not all people with OI will have blue sclerae or hearing loss. All do have fragile bones, but not all people with OI will ever break a bone.

A variety of other symptoms may be found in the various types of OI:

Bone fracture (broken bone)
- More than one broken bone occurring in a single episode (multiple)
- Fractures present at birth
- Occuring after only minor trauma
Deformed or short extremities (such as leg deformities or arm deformities)
Deafness (conductive hearing loss may occur in adolescents and adults)
Kyphosis
Kyphoscoliosis
Short stature
Tooth abnormalities
Low nasal bridge
Pectus carinatum
Pectus excavatum
Pes planus (flat feet)
Joint laxity
Hypermobility
Easy bruising
Bowed legs

Signs and tests:

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

Bone x-rays may show multiple healed fractures.

The diagnosis is made by collagen studies done on a skin punch biopsy. Once the specific molecular diagnosis is known, family members can be tested by a DNA blood test. DNA testing on prenatal chorionic villus samples (CVS) can make the diagnosis during pregnancy.

Severe OI is visible on prenatal ultrasound as early as 16 weeks.