Table 5.
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.