Table 5.
Comparison of the clinical manifestations of patients with SMAD2, SMAD3, TGFB2, and TGFB3 mutations
| TGFB2 | TGFB3 | SMAD3 | SMAD2 | |
|---|---|---|---|---|
| Hypertelorism | + | + | + | + |
| Bifid uvula/cleft palate | + | + | + | − |
| Exotropia | + | + | + | ? |
| Craniosynostosis | − | − | + | ? |
| Cervical spine instability | − | + | + | ? |
| Retrognathia | + | + | + | − |
| Scoliosis | + | + | + | + |
| Club foot | + | + | + | − |
| Osteo‐arthritis | + | + | + | + |
| Dural ectasia | + | ? | + | + |
| Pneumothorax | + | − | + | + |
| Hernia | + | + | + | + |
| Dissection at young age | + | ? | + | − |
| Arterial tortuosity | + | − | + | + |
+ indicates presence of the clinical feature, − indicates absence of the clinical features and a question mark illustrates presence of the clinical feature is unknown.