We created a template referral letter for you to use to simplify the process when you are referring a patient to a specialist for further evaluation or testing for the diagnosis of Marfan syndrome or a related disorder. The letter makes it easy for you to note the features you observed that raise your suspicion of these disorders.
Marfan syndrome often causes problems in the bones and joints—in fact, these are often the features that first lead a person to suspect Marfan syndrome and seek a diagnosis.These features (called skeletal features) happen when bones grow extra-long or ligaments (connective tissue that holds joints together) become stretchy—like loose rubber bands. What are the common […]
For years, geneticists and cardiologists have taken pride in their ability to identify individuals with Marfan syndrome based on clinical assessment alone, and have minimized a role for genetic testing in the diagnosis. Once the gene FBN1 was found to be the cause of Marfan syndrome, testing was undertaken to determine the role of genetic testing in […]
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