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

@entity1 @entity1614 @entity299
OBJECTIVE: To evaluate presenting signs and clinical diagnosis in a cohort of @entity1 referred to rule out @entity1614 . METHODS: A retrospective chart review was performed on @entity1 referred to the Cleveland Clinic Foundation between November 1993 and July 2001 to rule out @entity1614 . 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 @entity1 averaging 23.5 years of age completed a comprehensive evaluation to rule out @entity1614 . A clinical diagnosis of this condition was made in 28 (37%) @entity1 (12 males, 16 females). Reasons for referral included one or more of the following: (1) the finding by a physician of one or more typical clinical manifestations of the disease; (2) a known family history of the syndrome; and/or (3) curiosity on the part of the @entity1 or family as a result of publicity about @entity1614 in lay or medical journals or in television programs. Twenty-eight individuals (37% of the total group) were referred because of skeletal findings common to the syndrome. Of these, 10 (36%) were diagnosed with the disease. Seven (78%) of the nine @entity1 who presented with ocular signs or symptoms were ultimately diagnosed with the disorder. Of the 22 individuals referred because of cardiovascular signs or symptoms, nine (41%) were diagnosed with @entity1614 . Twelve (31%) of 39 individuals with a known family history of @entity1614 or symptoms common to this condition had a positive diagnosis. Of six individuals evaluated in response to publicity about the disease, two (33%) were ultimately diagnosed with the disorder. CONCLUSION: The most common reasons for evaluation to rule out @entity1614 include a positive family history of the condition and the presence of one of its common manifestations (e.g., body habitus, @entity299 , or subluxated lenses). In the present series of @entity1 , the physical finding that predicted the diagnosis most was subluxation of the ocular lens.
