Percentage | Cases | |
---|---|---|
Gender | ||
Male | 40.0% | 2/5 |
Female | 60.0% | 3/5 |
General | ||
Birth Length abnormalities | 50.0% | 2/4 |
< P3 : Birth length less than 3rd percentile | 50.0% | 2/4 |
Birth Weight abnormalities | 50.0% | 2/4 |
< P3 : Small for gestational age | 50.0% | 2/4 |
Birth Head circumference abnormalities | 0% | 0/4 |
Current Height abnormalities | 20.0% | 1/5 |
< P3 : Short stature | 20.0% | 1/5 |
Current Weight abnormalities | 20.0% | 1/5 |
< P3 : Decreased body weight | 20.0% | 1/5 |
Current Head circumference abnormalities | 0% | 0/5 |
Neurology | ||
Neurological abnormalities | 100.0% | 5/5 |
Central hypotonia | 40.0% | 2/5 |
Abnormal muscle tone | 20.0% | 1/5 |
Craniofacial dystonia | 20.0% | 1/5 |
EEG with generalized epileptiform discharges | 20.0% | 1/5 |
Focal motor seizures | 20.0% | 1/5 |
Generalized tonic seizures | 20.0% | 1/5 |
Irritability | 20.0% | 1/5 |
Spastic tetraplegia | 20.0% | 1/5 |
Behavioral problems | 50.0% | 1/2 |
Autism | 50.0% | 1/2 |
Echolalia | 50.0% | 1/2 |
Impaired use of nonverbal behaviors | 50.0% | 1/2 |
Low frustration tolerance | 50.0% | 1/2 |
Brain abnormality | 80.0% | 4/5 |
Abnormality of the cerebral white matter | 40.0% | 2/5 |
Aplasia of the inferior half of the cerebellar vermis | 20.0% | 1/5 |
Cerebral hypoplasia | 20.0% | 1/5 |
Dilation of lateral ventricles | 20.0% | 1/5 |
Dilated third ventricle | 20.0% | 1/5 |
Ventriculomegaly | 20.0% | 1/5 |
Facial abnormalities | ||
Abnormality of the ear | 40.0% | 2/5 |
Abnormal location of ears | 20.0% | 1/5 |
Large fleshy ears | 20.0% | 1/5 |
Abnormality of the eye | 60.0% | 3/5 |
Large eyes | 40.0% | 2/5 |
Blindness | 20.0% | 1/5 |
Abnormality of the nose | 20.0% | 1/5 |
Depressed nasal tip | 20.0% | 1/5 |
Abnormality of the mouth | 40.0% | 2/5 |
Micrognathia | 20.0% | 1/5 |
Tented upper lip vermilion | 20.0% | 1/5 |
Visual and hearing impairments | ||
Abnormal hearing | 33.3% | 1/3 |
Unilateral deafness | 33.3% | 1/3 |
Abnormal vision | 60.0% | 3/5 |
Blindness | 20.0% | 1/5 |
Glaucoma | 20.0% | 1/5 |
Horizontal nystagmus | 20.0% | 1/5 |
Retinopathy | 20.0% | 1/5 |
Vertical nystagmus | 20.0% | 1/5 |
Heart | ||
Abnormality of the heart | 20.0% | 1/5 |
Abnormality of the ventricular septum | 20.0% | 1/5 |
Gastrointestinal | ||
Gastrointestinal abnormalities | 100.0% | 5/5 |
Gastroesophageal reflux | 60.0% | 3/5 |
Failure to thrive | 40.0% | 2/5 |
Abdominal colic | 20.0% | 1/5 |
Acute constipation | 20.0% | 1/5 |
Chronic constipation | 20.0% | 1/5 |
Constipation | 20.0% | 1/5 |
Episodic vomiting | 20.0% | 1/5 |
Feeding difficulties | 20.0% | 1/5 |
Poor appetite | 20.0% | 1/5 |
Vomiting | 20.0% | 1/5 |
Urogenital | ||
Abnormality of the urogenital system | 40.0% | 2/5 |
Bifid scrotum | 20.0% | 1/5 |
Hydrocele testis | 20.0% | 1/5 |
Hypospadias | 20.0% | 1/5 |
Partially duplicated kidney | 20.0% | 1/5 |
Skeleton | ||
Skeletal abnormalities | 20.0% | 1/5 |
Posterior plagiocephaly | 20.0% | 1/5 |
Skin / Hair / Nails | ||
Abnormality of the skin/hair/nails | 40.0% | 2/5 |
Cutis marmorata | 20.0% | 1/5 |
Sparse anterior scalp hair | 20.0% | 1/5 |
Umbilical hernia | 20.0% | 1/5 |
Endocrine / Immunological / Metabolic | ||
Abnormality of the immune system | 25.0% | 1/4 |
Severe recurrent varicella | 25.0% | 1/4 |