Table 1.
Comparison of the clinical and radiological findings of the present patient with those of reported patients
| Features | Present patient |
Saal et al. (2015) |
Gordon et al. (2014) |
Venditti et al. (2002) |
Maroteaux et al. (1998) |
||||
|---|---|---|---|---|---|---|---|---|---|
| patient 1 | patient 2 | patient 1 | patient 2 | patient 1 | patient 2 | patient 3 | |||
| Age of last examination | 21 years | 25 years | 6 years | 48 years | 25 years | 1 month | newborn | 27 years | 10 years |
| Gender | F | F | M | F | F | M | M | F | F |
| Height, percentile | <5 | 10 | <5 | <5 | 25 | 25 | 5 | 10 | 10 |
| Facial features | |||||||||
| Round face | + | + | + | − | + | NA | + | NA | + |
| Prominent forehead | + | + | + | + | + | + | − | − | + |
| Hypertelorism | + | − | − | − | + | + | + | + | − |
| Broad nasal bridge | + | + | + | + | + | + | + | − | − |
| Small nose with broad nasal tip | − | + | + | + | + | + | + | + | + |
| Long philtrum | − | + | + | + | + | + | − | − | − |
| Microretrognathia | + | + | + | + | − | + | − | − | − |
| Cleft lip/palate | + | + | − | − | − | − | − | − | − |
| Skeletal features | |||||||||
| Short humeri | + | + | + | + | + | + | + | + | + |
| Radial dislocation | + | + | + | + | + | + | + | + | + |
| Limited elbow joints | + | + | + | + | - | NA | + | + | + |
| Short ulnae | + | NA | + | − | + | + | + | + | + |
| Short first metacarpal bones | + | NA | + | + | + | + | + | + | + |
| Short fibulae | + | NA | + | − | − | − | − | − | − |
| Genital anomalies | − | + | − | + | + | + | + | − | − |
| FZD2 mutation | c.1301G>T (p.Gln434Val) | c.1644G>A (p.Trp548*) | NA | NA | NA | ||||
NA, not assessed. +, present; –, absent.