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. Author manuscript; available in PMC: 2018 Jul 25.
Published in final edited form as: Am J Med Genet A. 2016 Nov 14;173(2):315–323. doi: 10.1002/ajmg.a.38051

TABLE II.

Frequency of Self-Reported Physical Features of MFS

I. Physical Features Presenting
symptoms
Current symptoms
MFS (N = 245) (%) [CI] (%) [CI]
Cardiovascular
 symptomsa
29.0 23.6–34.9 93.1 89.4–95.7
Aortic dilatatione 11.4 7.9–15.9 62.4 56.3–68.3
Ocular symptomsb 19.6 15.0–24.9 72.2 66.4–77.6
Ectopic lentise 7.3 4.6–11.1 12.7 8.9–17.2
Musculoskeletal
 symptomsc
36.3 30.5–42.5 95.5 92.4–97.6
Paind 28.2 22.8–34.0 89.0 84.6–92.4

[CI], 95% confidence interval;

a

aortic aneurysm/dissection, bicuspid aortic valve, cystic medial necrosis, murmur, mitral valve prolapse, palpitations;

b

cataracts, glaucoma, ectopic lentis, iris coloboma, myopia, or retinal detachment;

c

above average height, arachnodactylyl, joint hypermobility, kyphosis, scoliosis, degenerative disk disease, early-onset osteoarthritis, osteopenia, osteoporosis, pectus carinatum/excavatum, or pes planus;

d

pain, ache, hurt, or discomfort;

e

cardinal feature of MFS.