Table 2 –
Facial features observed in the cohort.
| Head | |
| Microcephaly | 13/18 |
| Plagiocephaly | 4/14 |
| Brachycephaly | 2/14 |
| Forehead | |
| High, broad forehead / frontal bossing | 7/8 |
| Bitemporal narrowing | 2/8 |
| Eyes | |
| Sparse eyebrows | 6/6 |
| Hypertelorism | 3/5 |
| Palpebral fissures | |
| Downslanting | 2/5 |
| Upslanting | 1/5 |
| Midface | |
| Midface hypoplasia | 10/11 |
| Midface retrusion | 4/11 |
| Nose | |
| Broad nasal root or bridge | 8/12 |
| Flat nasal bridge | 4/12 |
| Anteverted nares / upturned nasal tip | 5/12 |
| Mouth | |
| Tented / triangular | 6/8 |
| Oropharynx | |
| Bifid uvula | 2/11 |
| High-arched palate | 1/11 |
| Protruding tongue | 4/5 |
| Chin | |
| Micrognathia | 2/6 |
| Retrognathia | 1/6 |
| Ears | |
| Low-set | 8/10 |
| Abnormally-folded | 4/10 |
| Posteriorly-rotated | 1/10 |
| Pre-auricular tags | 1/10 |