Patient characteristics
Patient No | FH/SP | Age at diagnosis (years) | Presenting feature | Height centile | Weight centile | Pal | AR | Sco | PD | PP | ST | FF | Dis | EL | MY | MVP | MR | AD |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | FH | 16 | MS, cardiac | 90th | 50th | + | + | + | + | − | − | + | + | − | − | − | − | + |
2 | FH | 14 | MS | 97th | 50th | + | + | + | − | + | − | + | + | − | − | − | − | − |
3 | SP | 7 | MS | > 97th | 50th | + | + | + | + | + | + | + | + | − | − | − | − | + |
4 | FH | 2.5 | MS | > 97th | 50th | + | + | + | + | + | − | + | + | − | − | − | − | − |
5 | SP | 16 | MS | > 97th | 75th | − | + | − | + | + | + | + | + | − | − | + | + | − |
6 | FH | 11 | MS | > 97th | 50th | + | + | + | + | + | + | + | + | − | − | − | − | + |
7 | FH | 9 | MS, cardiac | > 97th | 50th | + | + | − | + | + | − | + | + | − | − | − | − | + |
8 | FH | 0.5 | MS | > 97th | 50th | + | + | − | + | + | − | + | + | − | − | − | − | + |
9 | SP | 14 | MS, cardiac | > 97th | 75th | + | + | + | + | − | − | + | + | − | − | − | − | + |
10 | FH | 2 | MS | > 97th | 97th | + | + | − | + | + | − | + | + | − | + | − | − | − |
11 | FH | 3 | MS | > 97th | 97th | + | + | − | + | + | − | + | + | − | − | − | − | − |
12 | SP | 3 | MS, ocular | > 97th | 97th | + | + | + | − | + | + | + | + | + | + | − | + | + |
13 | FH | 15.5 | MS | > 97th | 50th | + | + | + | + | − | + | + | + | − | − | − | − | + |
14 | FH | 13.5 | MS | > 97th | 75th | + | − | − | − | − | + | + | + | − | − | − | − | − |
15 | FH | 13.5 | MS | > 97th | 50th | + | + | − | + | − | + | + | + | − | − | − | − | − |
16 | FH | 10 | MS | > 97th | 25th | + | − | + | + | + | − | + | + | − | − | + | + | − |
17 | FH | 12.5 | MS | > 97th | 75th | + | + | + | + | + | + | − | + | − | − | − | − | − |
18 | FH | 11 | MS | > 97th | 75th | + | − | + | − | − | − | − | + | − | − | + | + | − |
19 | SP | 14 | MS | > 97th | 50th | + | + | + | + | + | + | + | + | − | + | − | − | − |
20 | FH | 10 | MS | 75th | 50th | − | + | + | + | + | + | − | + | − | − | − | − | − |
21 | SP | 14 | MS | > 97th | 75th | + | + | + | + | + | + | + | + | − | − | − | − | − |
22 | SP | 11 | MS, cardiac | > 97th | 75th | − | + | + | + | + | + | + | + | − | − | − | − | + |
23 | SP | 11 | MS | 25th | 3rd | + | + | + | + | + | + | + | + | − | + | − | − | − |
24 | FH | 1.5 | Ocular | 90th | 25th | + | + | + | − | − | + | + | + | + | + | − | − | + |
25 | FH | 4 | MS | 97th | 75th | + | + | + | + | + | − | − | + | − | − | − | − | + |
26 | FH | 2.5 | MS | 75th | 10th | + | + | − | + | + | + | − | + | − | − | − | − | − |
27 | FH | 7 | MS | 97th | 50th | + | + | − | − | + | − | + | + | − | − | − | − | + |
28 | FH | 5 | MS | 75th | 50th | + | + | + | + | + | − | + | + | − | − | − | − | − |
29 | FH | 12 | MS, cardiac | 90th | 50th | + | + | − | − | + | − | + | + | − | − | − | − | + |
30 | FH | 4 | MS | > 97th | 50th | + | + | + | + | + | + | + | + | − | + | − | − | + |
31 | FH | 4 | MS | > 97th | 25th | + | + | + | + | + | + | + | + | − | − | − | − | + |
32 | FH | 3 | MS, ocular | > 97th | 50th | + | + | − | + | + | − | + | + | + | + | − | − | − |
33 | FH | 4 | MS, ocular | 97th | 75th | + | + | − | + | + | + | + | + | + | − | − | − | − |
34 | FH | 0.25 | MS | > 97th | 97th | − | + | + | − | + | − | − | − | − | − | − | − | − |
35 | FH | 14 | Ocular | 90th | 25th | + | + | + | − | + | + | + | + | + | + | − | − | + |
36 | FH | 2 | MS, ocular | > 97th | 50th | + | + | + | + | + | − | + | + | + | + | + | + | + |
37 | FH | 12 | MS | > 97th | 50th | + | + | + | + | + | + | + | + | − | − | + | + | − |
38 | SP | 10 | MS | > 97th | 50th | + | + | + | + | + | + | + | + | − | + | + | − | − |
39 | SP | 14 | MS, cardiac | > 97th | 50th | + | + | + | + | − | + | + | + | − | + | + | + | − |
40 | FH | 0.25 | MS | > 97th | 50th | + | + | − | + | − | − | − | + | − | − | − | − | − |
FH, family history; SP, sporadic case; MS, musculoskeletal; Pal, high arched palate; AR, arachnodactyly; Sco, scoliosis; PD, pectus deformity; PP, pes planus; ST, striae; FF, facial features; Dis, limb disproportion; EL, ectopia lentis; MY, severe myopia; MVP, mitral valve prolapse; MR, mitral regurgitation; AD, aortic dilatation; +, present; −, absent.