Percentage | Cases | |
---|---|---|
Gender | ||
Male | 100.0% | 2/2 |
Female | 0% | 0/2 |
Indifferent | 0% | 0/2 |
Unknown | 0% | 0/2 |
General | ||
Birth Length abnormalities | 0% | 0/2 |
Birth Weight abnormalities | 0% | 0/2 |
Birth Head circumference abnormalities | 0% | 0/2 |
Current Height abnormalities | 50.0% | 1/2 |
< P3 : Short stature | 50.0% | 1/2 |
Current Weight abnormalities | 0% | 0/2 |
Current Head circumference abnormalities | 0% | 0/2 |
Neurology | ||
Neurological abnormalities | 50.0% | 1/2 |
Central hypotonia | 50.0% | 1/2 |
Delayed gross motor development | 50.0% | 1/2 |
Language impairment | 50.0% | 1/2 |
Neurodevelopmental delay | 50.0% | 1/2 |
Behavioral problems | 50.0% | 1/2 |
Impulsivity | 50.0% | 1/2 |
Short attention span | 50.0% | 1/2 |
Brain abnormality | 100.0% | 1/1 |
Arachnoid cyst | 100.0% | 1/1 |
Facial abnormalities | ||
Abnormality of the ear | 100.0% | 2/2 |
Large earlobe | 50.0% | 1/2 |
Overfolding of the superior helices | 50.0% | 1/2 |
Abnormality of the eye | 100.0% | 2/2 |
Almond-shaped palpebral fissure | 50.0% | 1/2 |
Deeply set eye | 50.0% | 1/2 |
Downslanted palpebral fissures | 50.0% | 1/2 |
Hypertelorism | 50.0% | 1/2 |
Sparse lateral eyebrow | 50.0% | 1/2 |
Unilateral strabismus | 50.0% | 1/2 |
Upslanted palpebral fissure | 50.0% | 1/2 |
Abnormality of the nose | 100.0% | 2/2 |
Anteverted nares | 50.0% | 1/2 |
Depressed nasal bridge | 50.0% | 1/2 |
Abnormality of the mouth | 100.0% | 2/2 |
Long philtrum | 50.0% | 1/2 |
Narrow mouth | 50.0% | 1/2 |
Smooth philtrum | 50.0% | 1/2 |
Tented philtrum | 50.0% | 1/2 |
Tented upper lip vermilion | 50.0% | 1/2 |
Gastrointestinal | ||
Gastrointestinal abnormalities | 50.0% | 1/2 |
Neonatal cholestatic liver disease | 50.0% | 1/2 |