Present case P24 | Stark et al. | |
---|---|---|
Cardiac problems at birth | - | Small muscular ventricular septal defect at birth but closed spontaneously |
Poor suck & hypotonia first weeks of life | - | + |
Prominent forehead | Small | + |
Epicanthal folds | - | + |
Arched eyebrows | + | + |
Long eyelashes | + | |
Eye problems | - | + |
Small mouth | - | + |
Small and squared ears | - | + |
Upslanting palpebral fissures | + | |
Flat pillar of the nose, wide nose | + | - |
Fingers/toes abnormalities | Short second toe | 2/3 toe syndactyly |
Skeletal abnormalities | Syringomyelia | Radioulnar synostosis |
Delay | Severe | Moderate, no developmental regression |
Walked at the age of | 30 months | 24 months |
Ataxic gait | + | + |
Others | eczema |