Presenting signs and clinical diagnosis in individuals referred to rule out Marfan syndrome.

Objective: To evaluate presenting signs and clinical diagnosis in a cohort of patients referred to rule out Marfan syndrome. Methods: A retrospective chart review was performed on patients referred to the Cleveland Clinic Foundation between November 1993 and July 2001 to rule out Marfan syndrome. Clinical findings necessary for the diagnosis of the disorder according to current criteria (De Paepe et al., Am J Med Genet. 1996;62:417-426) were determined through complete physical examination and testing, including an echocardiogram and a slit-lamp examination. Information regarding age, sex, reason for evaluation, family history, symptoms, and ultimate clinical diagnosis were extracted from the charts. Results: Seventy-five patients averaging 23.5 years of age completed a comprehensive evaluation to rule out Marfan syndrome. A clinical diagnosis of this condition was made in 28 (37%) patients (12 males, 16 females). Reasons for referral included one or more of the following: (1) the finding by a physician o...