Osteogenesis imperfecta

Causes and Risks:
This serious bone disorder is usually present at birth as an inherited disease. Osteogenesis imperfecta is classified into four types. Type I is autosomal dominant (50% of the children will develop the disorder if one parent has the gene for the disorder). Type II is autosomal dominant but is not seen much because this type is lethal. Type IV is also autosomal dominant. Type III is autosomal recessive (both parents must transmit the gene for the disorder in order for symptoms to develop in the child).

Infants may have multiple fractures which result in shortened arms and legs. The skull may be affected. Trauma to the skull during delivery may result in stillbirth. Infants may die shortly after birth. Mild cases may not be detected until later in life.

Prevention:
Genetic counseling is recommended for prospective parents if one or both are affected by this disorder.

Symptoms:



Signs and Tests:
A physical examination confirms the presence of fractures , deformities, and other symptoms.

Bone X-rays show multiple healed fractures

Treatment:
Fractures must be repaired quickly in the usual ways to avoid deformities. There is no specific treatment for the underlying disease.

Prognosis:
Permanent deformity of the extremities may occur. Brain damage may result from skull fractures . The disorder can be fatal. The disease is grouped by type:

  • type I
    • has a good life expectancy

  • type II
    • lethal

  • type III
    • has a decreased life expectancy, where few reach adulthood

  • type IV
    • good life expectancy



Complications:

  • brain damage
  • permanent deformity



Call Your Healthcare Provider:
This disorder is often diagnosed at birth, but mild cases may not be detected until later in life. Call for an appointment with your health care provider if symptoms of this disorder appear.


Pectus excavatum is a condition in which the "breast bone" (sternum) appears sunken and the chest concave. It is sometimes called "funnel chest". The majority of these cases are not associated with any other condition (isolated findings). However, some syndromes include pectus excavatum.