Improving clinical recognition of Marfan syndrome.

TitleImproving clinical recognition of Marfan syndrome.
Publication TypeJournal Article
Year of Publication2010
AuthorsSponseller PD, Erkula G, Skolasky RL, Venuti KD, Dietz HC
JournalThe Journal of bone and joint surgery. American volume
Date Published2010 Aug 4

Marfan syndrome is a potentially fatal disorder with cardiovascular, skeletal, and other manifestations that may also be seen in individuals without Marfan syndrome, making diagnosis difficult. Our goals were (1) to examine the ways in which patients have been recognized as having Marfan syndrome, (2) to examine the prevalence of current diagnostic findings, and (3) to determine which physically evident features are most sensitive and specific for referral to confirm a diagnosis of Marfan syndrome.

Alternate JournalJ Bone Joint Surg Am