Table I.
Summary of exam findings of individuals with Noonan syndrome from diverse backgrounds including 99 unpublished individuals from present study and 370 individuals from the medical literature (Bertola et al., 2006; Essawi et al., 2013; Hung et al., 2007; Jongmans et al., 2005; Ko et al., 2008; Lee et al., 2011; Lee et al., 2007; Ndiaye et al., 2014; Simsek-Kiper et al., 2013; Yoshida et al., 2004).
| Present Study | Hung et al., 2007 | Ndiaye et al., 2014 | Bertola et al., 2006 | Yoshida et al., 2004 | Lee et al., 2007 | Ko et al., 2008 | Simsek-Kiper et al., 2013 | Essawi et al. 2013 | Jongmans et al., 2005 | Lee et al., 2011 | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Africa | Asia | Latin America | P-values | Taiwan | Senegal | Brazil | Japan | Korea | Korea | Turkey | Egypt | The Netherlands | Korea | |
| n=30 | n=36 | n=33 | n=34 | n=6 | n=50 | n=45 | n=14 | n=59 | n=26 | n=21 | n=56 | n=59 | ||
| Average age (years) | 9.3 | 8.6 | 9.9 | 9.06 years | 12 years | 10 years | 14.8 years | 8.8 years | 3.7 years | |||||
| Age range (years) | 0.33–30 | 0.17–31 | 0.17–31 | 1–31 years | 0.3–24.1 years | 0.1–34.5 years | 2–29 years | 0.1–17.2 years | 0.25–29 years | 2–20 years | ||||
| PTPN11 | 6/9 (67%) | 22/26 (85%) | 17/21 (81%) | 13 (38%) | 2 (33%) | 21 (42%) | 18 (40%) | 7 (50%) | 16 (27%) | 7 (27%) | 56 (100%) | 23 (39%) | ||
| SOS1 | 2/26 (8%) | 2/21 (10%) | 10 (17%) | 5 (19%) | 12 (20%) | |||||||||
| SHOC2 | 0 | 3 (12%) | ||||||||||||
| widely spaced eyes | 80% | 96% | 94% | 0.10 | 6 (100%) | 22 (44%) | 45 (100%) | 22 (85%) | 21 (100%) | |||||
| ptosis | 63% | 72% | 94% | 0.011 | 12 (35%) | 25 (96%) | 6 (29%) | |||||||
| downslanted palpebral fissures | 87% | 86% | 73% | 0.25 | 20 (59%) | 33 (66%) | 19 (73%) | 21 (100%) | ||||||
| epicanthal folds | 70% | 64% | 55% | 0.44 | 19 (56%) | |||||||||
| low-set ears | 82% | 94% | 88% | 0.30 | 1 (17%) | 15 (58%) | 12 (57%) | |||||||
| lowset posterior hairline | 64% | 76% | 69% | 0.57 | 25 (74%) | |||||||||
| webbed neck | 57% | 36% | 69% | 0.023 | 21 (62%) | 3 (50%) | 46 (92%) | 10 (71%) | 16 (62%) | 21 (100%) | 10 (18%) | 48.30% | ||
| pulmonary stenosis | 50% | 53% | 48% | 0.94 | 12 (35%) | 2 (33%) | 28 (56%) | 16 (36%) | 8 (57%) | 24 (41%) | 16 (62%) | 5 (24%) | 38(68%) | 22/43 (51%) |
| hypertrophic cardiomyopathy | 7% | 11% | 10% | 0.82 | 3 (50%) | 6 (12%) | 5 (11%) | 13 (22%) | 2 (8%) | 4 (19%) | 4 (7%) | 11/43 (26%) | ||
| ASD | 27% | 14% | 24% | 0.39 | 14 (31%) | 6 (43%) | 19 (32%) | 11 (42%) | 17 (30%) | 12/43 (28%) | ||||
| VSD | 7% | 17% | 6% | 0.26 | 2 (14%) | 13 (22%) | 3 (12%) | 7/43 (16%) | ||||||
| septal defects | 37% | 36% | 27% | 0.66 | 16 (47%) | 11 (79%) | 14/26 (54%) | |||||||
| PDA | 0% | 8% | 0% | 7 (12%) | 7/43 (16%) | |||||||||
| short stature (<3rd centile%) | 71% | 80% | 83% | 0.53 | 32 (94%) | 6 (100%) | 48 (96%) | 9 (64%) | 30 (51%) | 14/26 (54%) | 15 (71%) | 41 (73%) | 27/41 (66%) | |
| chest deformity | 59% | 49% | 70% | 0.21 | 13 (38%) | 4 (67%) | 28 (56%) | 9 (20%) | 9 (64%) | 14 (24%) | 17 (81%) | 24 (43%) | 16/43 (37%) | |
| Scoliosis | 37% | 17% | 13% | 0.08 | 9/47 (19%) | |||||||||
| Undescended testes | 47% | 26% | 47% | 0.17 | 1/2 (50%) | 14/27 (52%) | 9/25 (36%) | 4/9 (44%) | 19/41 (46%) | 4/12 (33%) | 27/32 (84%) | 11/29 (38%) | ||
| Coagulopathy | 26% | 14% | 6% | 0.12 | 20/48 (42%) | 5 (11%) | 3 (5.1%) | 32 (57%) | 4/43 (9%) | |||||
| Learning disability/intellectual disability | 64% | 54% | 63% | 0.69 | 19 (56%) | 11/43 (26%) | 12 (46%) | 11 (52%) | 28 (50%) | 11/40 (28%) | ||||
| Renal anomalies | 11% | 17% | 10% | 0.75 | 7/50 (14%) | |||||||||
| Skin pigmentation lesions | 12% | 38% | 27% | 0.12 | ||||||||||