Table 1.
Main clinical features of patients 1–4
| Patients | Family 1 | Family 2 | ||
|---|---|---|---|---|
| 1 | 2 | 3 | 4 | |
| Dysmorphic facial features | + | + | + | + |
| Frontal upsweep | + | + | + | − |
| Edematous eyelids | + | + | + | + |
| Wide‐spaced eyebrows | + | + | + | + |
| Narrow palpebral fissures | + | + | + | − |
| Epicanthus | + | + | + | + |
| Anteverted nares | + | − | − | − |
| Bulbous nasal tip | − | − | − | + |
| Micrognathia | + | + | + | − |
| Limb abnormalities | + | + | + | − |
| Spatulate fingertips | + | + | + | − |
| Camptodactyly of fingers | + | − | − | − |
| Clinodactyly of toes | + | + | − | − |
| Gastroesophageal reflux | + | + | + | − |
| BMI (SD) | +1.5 | +2 | +1.5 | +2 |
| Congenital heart disease | − | − | − | + |
SD, standard deviations.