Table 2 of
Micheal, Mol Vis 2012; 18:1918-1926.
Table 2. Clinical evaluation of affected family members.
Patient ID | Manifestation | III:4 | III:5 | III:7 | IV:4 | IV:5 | IV:7 | IV:8 | IV:9 | IV:11 | IV:12 | IV:13 |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Age (years) | 55 | 40 | 35 | 30 | 28 | 12 | 16 | 8 | 20 | 6 | 6 | |
Gender | M | M | M | M | M | F | F | F | M | M | M | |
Ocular System | ||||||||||||
(i) | Ectopia lentis | + | + | + | + | + | + | + | + | + | + | + |
(ii) | Myopia | + | + | + | + | + | + | + | + | + | + | + |
(iii) | Abnormally flat cornea | - | - | - | - | - | - | - | - | - | - | - |
(iv) | Early development of nuclear cataract | + | + | + | - | - | - | + | - | + | + | + |
(V) | Glaucoma (IOP) | R34 | 15 | R14 | R15 | R14 | R20 | R16 | R12 | R18 | R14 | R18 |
L34 | 15 | L14 | L12 | L16 | L24 | L16 | L14 | R16 | L12 | L20 | ||
(Vi) | Retinal detachment | + | - | + | + | - | - | - | - | - | - | - |
Cardiovascular system | ||||||||||||
(i) | Aortic root dimension (mm)* | 32 | 31.8 | 23.6 | 35.1 | 27.5 | 25.1 | 28.7 | 20 | 34 | 35 | 20 |
(ii) | Mitral valve prolapse | - | - | - | - | - | - | - | - | - | - | - |
(iii) | Dilation of pulmonary artery | - | - | - | - | - | - | - | - | - | - | - |
Skeletal system | ||||||||||||
(i) | Height (H; cm) | 176.7 | 173.4 | 167.6 | 170.6 | 167.4 | 146.3 | 158.5 | 121 | 167.6 | 106.6 | 106.6 |
(ii) | Arm span (AS; cm) | 182 | 177 | 172 | 175 | 173 | 153 | 164 | 125 | 175 | 110 | 110 |
(iii) | AS/H (normal <1.05) | 1.03 | 1.02 | 1.02 | 1.02 | 1.03 | 1.04 | 1.03 | 1.03 | 1.04 | 1.03 | 1.03 |
(iv) | Pectus carinatum | - | - | - | - | - | - | - | - | - | - | - |
(v) | Pectus excavatum | - | - | - | - | - | - | - | - | - | - | - |
(vi) | Arachnodactyly | + | + | + | + | + | + | + | + | + | + | + |
(vii) | High palate with dental crowding | + | + | + | + | + | + | + | + | + | + | + |
(viii) | Flatfoot | + | + | + | + | + | + | + | + | + | + | + |
(ix) | Characteristic face (long narrow head, hollow cheeks, recessed or protruding jaw) | + | + | + | + | + | + | + | + | + | + | + |
Other manifestations | ||||||||||||
(i) | Hyperextensible skin | - | - | - | - | - | - | - | - | - | - | - |
(ii) | Striae | - | - | - | - | - | - | - | - | - | - | - |
(iii) | Hernia | + | + | + | + | + | - | - | + | + | - | - |