Percentage | Cases | |
---|---|---|
Gender | ||
Male | 75.0% | 6/8 |
Female | 25.0% | 2/8 |
Indifferent | 0% | 0/8 |
Unknown | 0% | 0/8 |
General | ||
Birth Length abnormalities | 0% | 0/8 |
Birth Weight abnormalities | 0% | 0/8 |
Birth Head circumference abnormalities | 0% | 0/8 |
Current Height abnormalities | 37.5% | 3/8 |
< P3 : Short stature | 37.5% | 3/8 |
Current Weight abnormalities | 25.0% | 2/8 |
< P3 : Decreased body weight | 25.0% | 2/8 |
Current Head circumference abnormalities | 62.5% | 5/8 |
> P98 : Macrocephaly | 50.0% | 4/8 |
< P3 : Microcephaly | 12.5% | 1/8 |
Neurology | ||
Neurological abnormalities | 28.6% | 2/7 |
EEG abnormality | 14.3% | 1/7 |
Seizures | 14.3% | 1/7 |
Behavioral problems | 71.4% | 5/7 |
Autism | 28.6% | 2/7 |
Delayed social development | 14.3% | 1/7 |
Impaired social interactions | 14.3% | 1/7 |
Low frustration tolerance | 14.3% | 1/7 |
Brain abnormality | 66.7% | 4/6 |
Arachnoid cyst | 16.7% | 1/6 |
Cerebral white matter atrophy | 16.7% | 1/6 |
Multifocal cerebral white matter abnormalities | 16.7% | 1/6 |
Facial abnormalities | ||
Abnormality of the ear | 28.6% | 2/7 |
Abnormality of the outer ear | 14.3% | 1/7 |
Low-set ears | 14.3% | 1/7 |
Abnormality of the eye | 42.9% | 3/7 |
Hypertelorism | 28.6% | 2/7 |
Short palpebral fissure | 14.3% | 1/7 |
Synophrys | 14.3% | 1/7 |
Upslanted palpebral fissure | 14.3% | 1/7 |
Abnormality of the nose | 28.6% | 2/7 |
Abnormality of the nasal tip | 14.3% | 1/7 |
Slender nose | 14.3% | 1/7 |
Abnormality of the mouth | 57.1% | 4/7 |
Abnormality of upper lip | 28.6% | 2/7 |
Long philtrum | 28.6% | 2/7 |
Chin dimple | 14.3% | 1/7 |
Retrognathia | 14.3% | 1/7 |
Smooth philtrum | 14.3% | 1/7 |
Visual and hearing impairments | ||
Abnormal vision | 28.6% | 2/7 |
Esotropia | 14.3% | 1/7 |
Hypermetropia | 14.3% | 1/7 |
Optic neuritis | 14.3% | 1/7 |
Unilateral strabismus | 14.3% | 1/7 |
Gastrointestinal | ||
Gastrointestinal abnormalities | 33.3% | 2/6 |
Chronic diarrhea | 16.7% | 1/6 |
Feeding difficulties in infancy | 16.7% | 1/6 |
Gastrostomy tube feeding in infancy | 16.7% | 1/6 |
Skeleton | ||
Skeletal abnormalities | 50.0% | 3/6 |
Abnormality of the radial head | 16.7% | 1/6 |
Bilateral camptodactyly | 16.7% | 1/6 |
Bowing of the legs | 16.7% | 1/6 |
Broad palm | 16.7% | 1/6 |
Broad foot | 16.7% | 1/6 |
Clinodactyly of the 5th finger | 16.7% | 1/6 |
Muscular hypotonia of the trunk | 16.7% | 1/6 |
Pes planus | 16.7% | 1/6 |
Scoliosis | 16.7% | 1/6 |
Shield chest | 16.7% | 1/6 |
Skin / Hair / Nails | ||
Abnormality of the skin/hair/nails | 16.7% | 1/6 |
Hemangioma | 16.7% | 1/6 |
Nevus | 16.7% | 1/6 |