Table 1 of
Vanita, Mol Vis 2007;
13:2035-2040.
Table 1. Clinical evaluation of six affected family members
Affected family members had isolated bilateral ectopia lentis. Other characteristic manifestations of Marfan syndrome in the integument, skeleton, and cardiovascular system were absent. Abbreviations: R/E: right eye; L/E: left eye; Tn: tension; +: present, -: absent.
Patient ID (as indicated in Figure 1) II-7 II-11 III-31 III-36 III-37 III-42 ---------------------------------- -------- -------- -------- ------------ -------- --------- Age (Years) 51 42 33 23 21 18 Sex M F M F F F Ocular system (i) Ectopia lentis + + + + + + (ii) Myopia -1.0 R/E -4.0 R/E -3.5 R/E Operated -1.0 R/E -0.75 R/E -1.5 L/E -0.5 L/E -3.5 L/E for ectopia -1.0 L/E -2.5 L/E lentis (iii) Abnormally flat cornea - - - - - - (iv) Early development of - - - - - - nuclear cataract (v) Strabismus - - - - - - (vi) Hypoplastic iris or - - - - - - ciliary muscle (vii) Glaucoma TN 13 Tn 16 Tn 12 Tn 14 Tn 14 Tn 16 14 12 12 12 11 17 Cardiovascular system (i) Aortic root dimension (mm) 32.9 20.0 35.0 21.1 26.1 23.6 (Normal Range 20-37 mm) (ii) Mitral valve prolapse Normal Normal Normal Normal Normal Normal (iii) Dilation of pulmonary Normal Normal Normal Normal Normal Normal artery (iv) Dilation or dissection of Normal Normal Normal Normal Normal Normal descending thoracic or abdominal aorta Skeletal system (i) Height (H; cm) 182.8 157.6 183 169 150 174 (ii) Arm span (AS; cm) 189 165 187 177 156 178.5 (iii) AS/H (normal <1.05) 1.03 1.04 1.02 1.04 1.04 1.02 (iv) Pectus carinatum - - - - - - (v) Pectus excavatum - - - - - - (vi) Scoliosis - - - - - - (vii) Arachnodactyly - - - - - - (viii) High palate with dental - - - - - - crowding (ix) Joint hypermobility - - - - - - (x) Characteristic face (Long - - - - - - narrow head, hollow cheeks, hollow eyed, recessed or protruding jaw) (xi) Flat foot - - - - - - Other manifestations (i) Hyperextensible skin - - - - - - (ii) Striae - - - - - - (iii) Hernia - - - - - - |