Table 1.
Features in investigated families affected by non-lethal EVMPS
| Case IV:3 (Family 1) | Case II:1 (Family 2) | Case IV:3 (Family 3) | |
|---|---|---|---|
| Consanguinity | + | - | + |
| Feature | |||
| History of abortion/IUFD | + | - | + |
| Reduced fetal movement | - | + | - |
| Sex | F | F | M |
| Age at examination | 1 month | 2.5 months | 7 years |
| Short stature | + | + | - |
| Multiple contractures | + | + | + |
| Pterygium axilla | + | + | + |
| Pterygium elbows | + | - | + |
| Pterygium knees | + | - | + |
| Camptodactyly | + | + | + |
| Clenched hands | + | + | - |
| Thumb crossing palms | + | + | - |
| Clubfeet | + | + | - |
| Rockerbottom feet | + | - | + |
| Expressionless face | - | - | + |
| micrognathia | + | + | + |
| Downturned corners of mouth | + | ||
| Low set ears | - | + | - |
| Downturned corners of mouth | + | - | - |
| High arched palate | - | - | + |
| Webbed neck/short neck | + | + | + |
| Long philtrum | + | + | |
| Hearing loss | NE | NE | - |
| Cryptorchidism | - | - | + |
| Other | Strabismus | Dimpling of elbow, hemangioma on forehead and nose, | Inguinal hernia Von willebrand hemophilia |