4/19/2015 Osteogenesis Imperfecta - Symptoms, Diagnosis, Treatment of Osteogenesis Imperfecta - NY Times Health Information

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HEALTH > TIMES HEALTH GUIDE > O > OSTEOGENESIS IMPERFECTA

Osteogenesis Imperfecta

PectusExcavatum

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Osteogenesis imperfecta is a condition causing extremelyfragile bones.

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Alternative NamesBrittle bone disease

CausesOsteogenesis imperfecta (OI) is a congenital disease, meaning it ispresent at birth. It is frequently caused by defect in the gene thatproduces type 1 collagen, an important building block of bone. There aremany different defects that can affect this gene. The severity of OIdepends on the specific gene defect.

OI is an autosomal dominant disease. That means if you have one copy ofthe gene, you will have the disease. Most cases of OI are inherited from aparent, although some cases are the result of new genetic mutations.

A person with OI has a 50% chance of passing on the gene and thedisease to their children.

SymptomsAll people with OI have weak bones, which makes them susceptible tofractures. Persons with OI are usually below average height ( shortstature). However, the severity of the disease varies greatly.

The classic symptoms include:

Blue tint to the whites of their eyes (blue sclera)

Multiple bone fractures

Early hearing loss (deafness)

Because type I collagen is also found in ligaments, persons with OI oftenhave loose joints (hypermobility) and flat feet. Some types of OI also leadto the development of poor teeth.

Symptoms of more severe forms of OI may include:

Bowed legs and arms

Kyphosis

Scoliosis (S-curve spine)

Exams and TestsOI is usually suspected in children whose bones break with very littleforce. A physical examination may show that the whites of their eyes have

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4/19/2015 Osteogenesis Imperfecta - Symptoms, Diagnosis, Treatment of Osteogenesis Imperfecta - NY Times Health Information

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a blue tint.

A definitive diagnosis may be made using a skin punch biopsy. Familymembers may be given a DNA blood test.

If there is a family history of OI, chorionic villus sampling may be doneduring pregnancy to determine if the baby has the condition. However,because so many different mutations can cause OI, some forms cannot bediagnosed with a genetic test.

The severe form of type II osteogenesis imperfecta can be seen onultrasound when the fetus is as young as 16 weeks.

TreatmentThere is not yet a cure for this disease. However, specific therapies canreduce the pain and complications associated with OI.

Bisphosphonates are drugs that have been used to treat osteoporosis.They have proven to be very valuable in the treatment of OI symptoms,particularly in children. These drugs can increase the strength anddensity of bone in persons with OI. They have been shown to greatlyreduce bone pain and fracture rate (especially in the bones of the spine).

Low impact exercises such as swimming keep muscles strong and helpmaintain strong bones. Such exercise can be very beneficial for personswith OI and should be encouraged.

In more severe cases, surgery to place metal rods into the long bones ofthe legs may be considered to strength the bone and reduce the risk offracture. Bracing can also be helpful for some people.

Reconstructive surgery may be needed to correct any deformities. Suchtreatment is important because deformities (such as bowed legs or aspinal problem) can significantly affect a person's ability to move or walk.

Regardless of treatment, fractures will occur. Most fractures heal quickly.Time in a cast should be limited since bone loss (disuse osteoporosis)may occur when you do not use a part of your body for a period of time.

Many children with OI develop body image problems as they enter theirteenage years. A social worker or psychologist can help them adapt to lifewith OI.

Outlook (Prognosis)How well a person does depends on the type of OI they have.

Type I, or mild OI, is the most common form. Persons with this type canlive a normal lifespan.

Type II is a severe form that is usually leads to death in the first year oflife.

Type III is also called severe OI. Persons with this type have manyfractures starting very early in life and can have severe bonedeformities. Many become wheelchair bound and usually have asomewhat shortened life expectancy.

Type IV, or moderately severe OI, is similar to type I, although personswith type IV often need braces or crutches to walk. Life expectancy isnormal or near normal.

There are other types of OI, but they occur very infrequently and most areconsidered subtypes of the moderately severe form (type IV).

Possible ComplicationsComplications are largely based on the type of OI present. They are oftendirectly related to the problems with weak bones and multiple fractures.

Complications may include:

Hearing loss (common in type I and type III)

Heart failure (type II)

Respiratory problems and pneumonias due to chest wall deformities

Spinal cord or brain stem problems

Permanent deformity

When to Contact a Medical ProfessionalSevere forms are usually diagnosed early in life, but mild cases may notbe noted until later in life. Make an appointment with your health careprovider if you or your child have symptoms of this condition.

PreventionGenetic counseling is recommended for couples considering pregnancy ifthere is a personal or family history of this condition.

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Back to TopReferencesMarini JC. Osteogenesis imperfecta. In: Kliegman RM, Behrman RE,Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed.Philadelphia, Pa: Saunders Elsevier;; 2011:chap 692.

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Review Date: 8/2/2011Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor ofPediatrics, University of Washington School of Medicine. Also reviewed byDavid Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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