Table 4.
Clinical features of the patients carrying rare PTPN11 mutations
| Case n°8 | Case n°9 | Case n°10 | Case n°16 | Father case n°16 | Case n°18 | Mother case n°18 | |
|---|---|---|---|---|---|---|---|
|
Sex |
|
|
|
|
|
|
|
|
Short stature |
|
|
|
|
|
|
|
|
Macrocephaly |
+ |
- |
+ |
- |
- |
|
|
|
Hypertelorism |
|
|
|
|
|
|
|
|
Downslanting palpebral fissures |
|
|
|
|
|
|
|
|
Palpebral ptosis |
- |
- |
+ |
- |
+ |
+ |
+ |
|
Epicanthal folds |
+ |
+ |
- |
+ |
- |
|
|
|
Short broad nose |
+ |
+ |
- |
+ |
- |
- |
|
|
Deeply grooved philtrum |
+ |
+ |
+ |
+ |
+ |
|
|
|
High wide peaks of the vermilion |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
|
Micrognathia |
- |
+ |
- |
|
|
|
|
|
Low-set and/or posteriorly angulated ears with thick helices |
|
|
|
|
|
|
|
|
Low posterior hairline |
- |
+ |
+ |
- |
- |
+ |
- |
|
Thorax anomalies |
- |
+ |
+ |
- |
- |
+ |
- |
|
Cardiac defect |
+ |
+ |
- |
- |
- |
|
|
|
- PVS |
- |
+ |
+ |
- |
- |
- |
- |
|
- ASD |
- |
- |
- |
|
|
|
|
|
- VSD |
- |
- |
- |
- |
- |
|
|
|
- PDA |
- |
+ |
- |
- |
- |
|
|
|
Arrhythmia |
- |
- |
- |
- |
- |
WPW |
- |
|
Renal anomaly |
- |
- |
- |
- |
- |
- |
- |
|
Cryptorchidism |
NA |
- |
- |
+ |
NA |
|
|
|
Developmental delay or cognitive deficit |
|
|
|
|
|
|
|
|
Alopecia |
- |
- |
+ |
+ |
- |
|
|
|
Pancreatic cyst |
+ |
- |
- |
- |
- |
|
|
|
Angioma |
- |
- |
- |
- |
- |
|
|
| Inheritance | NT | pat | NT | mat | NT |
ASD, atrial septal defect; VSD, ventricular septal defect; HCM, hypertrophic cardiomyopathy; mat, maternal; NA, not applicable; NT, not tested; pat, paternal; PDA, patent ductus arteriosus; PVS, pulmonary valve stenosis; WPW, Wolf-Parkinson-White.
+present; -not present.