Table 1.
Clinical features in PTPN11 pathogenic variant positive patients in the present study
| Craniofacial characteristics | Percentage ofPTPN11positive patients | Cardiac defects | Percentage ofPTPN11positive patients |
| Broad/High forehead | 31.7 | Hypertrophic cardiomyopathy | 8.5 |
| Hypertelorism | 50 | Atrial septal defect | 35.3 |
| Ptosis | 54.8 | Ventricular septal defect | 4.8 |
| Downward Slanting palpebral fissures | 84 | Pulmonary stenosis | 35.3 |
| Low set ears | 67 | ||
| Systemic Characteristics | Percentage ofPTPN11positive patients | Skin/Hair Abnormalities | Percentage ofPTPN11positive patients |
| Short Stature | 40 | Dry Skin | 4.8 |
| Webbed Neck/Low Posterior Hairline | 60.9 | Curly hair/woolly hair | 8.5 |
| Pectus abnormalities | 53.6 | Café au lait patches | 9.75 |
| Widely spaced nipples | 34.14 | ||
| Cubitus Valgus | 12.19 | ||
| Cryptorchidism | 43.75 |