Clinical findings of both patients
| Patient 1 | Patient 2 | |
| Birth | ||
| Gestational weeks | 42 | 42 |
| Weight (g) | 3320 | 2070 |
| Length (cm) | 52 | 44 |
| OFC (cm) | 34 | 33 |
| Apgar score | 9/9/8 | 1/1/5 |
| Age at examination (mth) | 18 | |
| Weight (g) | 9900 | |
| Height (cm) | 74 | |
| OFC (cm) | 45.5 | |
| Hypertelorism | + | + |
| Strabismus | − | − |
| Large, broad mouth | + | − |
| Downturned corners of mouth | + | + |
| Micrognathia | + | + |
| Cleft lip/palate | + | − |
| Dysplastic ears | + | − |
| Preauricular tag | − | − |
| Heart defect | + | − |
| Genital anomalies | Hypospadias | Hypospadias |
| Seizures | + | + |
| Additional findings | Orbital cysts | Iris coloboma |