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 |