Table 1 Clinical features in PTPN11 pathogenic variant positive patients in the present study
From: Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations
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 |