Table 1.
Comparison between the BOFS patients with detected TFAP2A mutation from Milunsky et al. [2008] and the present patients
| Clinical features | Patients with BOFS [Milunsky et al, 2008] | Present patients |
|---|---|---|
| Genetic defect | mut or del TFAP2A | del5ql3 |
| Family history | 2/6 | + |
| Intellectual disability | 0/6 | + |
| Branchial anomalies | 6/6 | + |
| Ocular anomalies | 5/6 | − |
| Facial anomalies | ||
| Auricular malformation | 6/6 | − |
| Characteristic face | 5/6 | − |
| Chin dimple or cleft | 3/6 | _ |
| Cleft lip and palate | 4/6 | _ |
| Facial nerve palsy | 1/6 | _ |
| Preauricular pits | 3/6 | − |
| Prematurely gray hair | 2/6 | + |
| Hearing loss | 5/6 | − |