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Marfan Syndrome.

Last updated Thursday, December 23, 2004

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Diagnosis and evaluation

How is marfan syndrome diagnosed?

Diagnosis is based on a detailed medical and family history; complete physical examination; height measurement; eye examination by an ophthalmologist; X-rays, electrocardiogram (EKG), and echocardiogram of the heart; and X-rays of the spine.

Once a diagnosis is made, ask for a referral to appropriate specialists or clinics for treatment. Since symptoms may not be apparent until adulthood, families with a history of Marfan syndrome should alert their children's pediatrician.

At this time, no test can determine whether an unborn child does or does not have the syndrome.

What health care professionals may help diagnose marfan syndrome?

Because this is a rare disorder, it is important to meet with a doctor who is knowledgeable about Marfan syndrome. Many pediatricians and arthritis specialists are familiar with Marfan syndrome, but if there are none in your area, you may consider meeting with a medical geneticist (specialist in inherited diseases). Your family physician, the National Marfan Foundation, or your local chapter of the March of Dimes can refer you to medical geneticists.

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