Course : MOC Part IV: Evaluation of the Individual with Suspected Marfan Syndrome
American College of Medical Genetics has recently published guidelines for evaluation of the individual with features of Marfan syndrome. This guideline reviews the revised (2010) consensus criteria for the diagnosis of Marfan syndrome as well as recommended medical management of individuals confirmed to have Marfan syndrome. In addition the guideline addresses other conditions considered in the differential diagnosis of Marfan syndrome with recommendations for medical management. A common referral to clinical geneticists is the tall, lanky individual with some skeletal manifestations suggestive of Marfan syndrome. A correct diagnosis is critical such that unaffected individuals are not inappropriately restricted and affected individuals are monitored appropriately.
ACMG Members and ACMG Trainees ($25)