From: Diagnosis of Noonan syndrome and related disorders using target next generation sequencing
 | Case n°8 | Case n°9 | Case n°10 | Case n°16 | Father case n°16 | Case n°18 | Mother case n°18 |
---|---|---|---|---|---|---|---|
Sex | Â | Â | Â | Â | Â | Â | Â |
Short stature | Â | Â | Â | Â | Â | Â | Â |
Macrocephaly | + | - | + | - | - | Â | Â |
Hypertelorism | Â | Â | Â | Â | Â | Â | Â |
Downslanting palpebral fissures | Â | Â | Â | Â | Â | Â | Â |
Palpebral ptosis | - | - | + | - | + | + | + |
Epicanthal folds | + | + | - | + | - | Â | Â |
Short broad nose | + | + | - | + | - | - | Â |
Deeply grooved philtrum | + | + | + | + | + | Â | Â |
High wide peaks of the vermilion | + | + | + | + | + | + | + |
Micrognathia | - | + | - | Â | Â | Â | Â |
Low-set and/or posteriorly angulated ears with thick helices | Â | Â | Â | Â | Â | Â | Â |
Low posterior hairline | - | + | + | - | - | + | - |
Thorax anomalies | - | + | + | - | - | + | - |
Cardiac defect | + | + | - | - | - | Â | Â |
- PVS | - | + | + | - | - | - | - |
- ASD | - | - | - | Â | Â | Â | Â |
- VSD | - | - | - | - | - | Â | Â |
- PDA | - | + | - | - | - | Â | Â |
Arrhythmia | - | - | - | - | - | WPW | - |
Renal anomaly | - | - | - | - | - | - | - |
Cryptorchidism | NA | - | - | + | NA | Â | Â |
Developmental delay or cognitive deficit | Â | Â | Â | Â | Â | Â | Â |
Alopecia | - | - | + | + | - | Â | Â |
Pancreatic cyst | + | - | - | - | - | Â | Â |
Angioma | - | - | - | - | - | Â | Â |
Inheritance | NT | pat | NT | mat | NT | Â | Â |