Clinical characteristics | NS patients with PTPN11 mutations | ML/LS patients with PTPN11 mutations | Patients without PTPN11 mutations |
---|---|---|---|
ML/LS, multiple lentigines/LEOPARD syndrome; NS, Noonan syndrome. | |||
Short stature | 20/23 | 2/11 | 20/50 |
Macrocephaly | 9/23 | 5/11 | 25/50 |
Facial dysmorphisms | 21/23 | 7/11 | 35/50 |
Pterygium colli | 4/23 | 0/11 | 20/50 |
Cubitus valgus | 8/23 | 0/11 | 11/50 |
Learning difficulties | 5/21 | 1/11 | 17/43 |
Thoracic anomalies | 21/23 | 5/11 | 43/50 |
Undescended testes | 6/11 | 1/6 | 8/23 |
Total | 23 | 11 | 50 |