The mitral valve shows minimal regurgitation, and the aortic root is at the upper limit of normal. The boy and his family are told that he has Marfan syndrome, and that he can not participate in school athletics. The family seeks second opinions from two orthopedic doctors. Each gives a different opinion. The family reads about the genetics of Marfan syndrome on the Internet.
Family is referred to genetics.
Marfan syndrome is a clinical diagnosis. There are additional features present in the skin and musculoskeletal system. There is NO commercial lab that offers genetic DNA analysis for the Marfan syndrome. The geneticist examines the skin for purple striae, softness, hypermobility, bruiseability, and unusual scarring. The spine is checked for scoliosis, the chest for asymmetry and pectus excavatum or carinatum.