Table 4.
Diagnoses of patients without TCS.
| Syndrome |
n, Clinical diagnosis |
n, Confirmation of diagnosis with genetic testing |
n, Total |
|---|---|---|---|
| Apert | 9 | 6 | 15 |
|
| |||
| Carpenter | – | 1 | 1 |
|
| |||
| Christian | 1 | – | 1 |
| Chromosomal | – | 4 | |
| 7p15p21 deletion | – | 1 | |
| Mosaic trisomy 9 | – | 1 | |
| 17q21.31 deletion | – | 1 | 4 |
| Unbalanced translocation, chr 11 and 8 | – | 1 | |
|
| |||
| Craniofrontonasal dysplasia | – | 2 | 2 |
|
| |||
| Crouzon with acanthosis nigricans | – | 3 | 3 |
|
| |||
| Crouzon | 3 | 12 | 15 |
|
| |||
| Kabuki | 1 | – | 1 |
|
| |||
| Manitoba-oculo-tricho-anal | 1 | – | 1 |
|
| |||
| Otopalatodigital | 1 | – | 1 |
|
| |||
| Pfeiffer | – | 1 | 1 |
|
| |||
| Saethre-Chotzen | 2 | 5 | 7 |
|
| |||
| Multiple congenital anomalies, no unifying diagnosis | 15 | 0 | 15 |
|
| |||
| Total | 33 | 34 | 67 |