Table 2

Patient characteristics

Patient NoFH/SPAge at diagnosis (years)Presenting featureHeight centileWeight centilePalARScoPDPPSTFFDisELMYMVPMRAD
1FH16MS, cardiac90th50th++++−−++−−−−+
2FH14MS97th50th+++−+−++−−−−−
3SP7MS> 97th50th++++++++−−−−+
4FH2.5MS> 97th50th+++++−++−−−−−
5SP16MS> 97th75th−+−+++++−−++−
6FH11MS> 97th50th++++++++−−−−+
7FH9MS, cardiac> 97th50th++−++−++−−−−+
8FH0.5MS> 97th50th++−++−++−−−−+
9SP14MS, cardiac> 97th75th++++−−++−−−−+
10FH2MS> 97th97th++−++−++−+−−−
11FH3MS> 97th97th++−++−++−−−−−
12SP3MS, ocular> 97th97th+++−++++++−++
13FH15.5MS> 97th50th++++−+++−−−−+
14FH13.5MS> 97th75th+−−−−+++−−−−−
15FH13.5MS> 97th50th++−+−+++−−−−−
16FH10MS> 97th25th+−+++−++−−++−
17FH12.5MS> 97th75th++++++−+−−−−−
18FH11MS> 97th75th+−+−−−−+−−++−
19SP14MS> 97th50th++++++++−+−−−
20FH10MS75th50th−+++++−+−−−−−
21SP14MS> 97th75th++++++++−−−−−
22SP11MS, cardiac> 97th75th−+++++++−−−−+
23SP11MS25th3rd++++++++−+−−−
24FH1.5Ocular90th25th+++−−+++++−−+
25FH4MS97th75th+++++−−+−−−−+
26FH2.5MS75th10th++−+++−+−−−−−
27FH7MS97th50th++−−+−++−−−−+
28FH5MS75th50th+++++−++−−−−−
29FH12MS, cardiac90th50th++−−+−++−−−−+
30FH4MS> 97th50th++++++++−+−−+
31FH4MS> 97th25th++++++++−−−−+
32FH3MS, ocular> 97th50th++−++−++++−−−
33FH4MS, ocular97th75th++−++++++−−−−
34FH0.25MS> 97th97th−++−+−−−−−−−−
35FH14Ocular90th25th+++−++++++−−+
36FH2MS, ocular> 97th50th+++++−+++++++
37FH12MS> 97th50th++++++++−−++−
38SP10MS> 97th50th++++++++−++−−
39SP14MS, cardiac> 97th50th++++−+++−+++−
40FH0.25MS> 97th50th++−+−−−+−−−−−

  • 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.