Patient Overview : 10

Frequency of all clinical findings

Percentage Cases
Gender    
Male 90.0% 9/10
Female 10.0% 1/10
General    
Birth Length abnormalities 10.0% 1/10
< P3 : Birth length less than 3rd percentile 10.0% 1/10
Birth Weight abnormalities 10.0% 1/10
< P3 : Small for gestational age 10.0% 1/10
Birth Head circumference abnormalities 20.0% 2/10
> P98 : Macrocephaly at birth 10.0% 1/10
< P3 : Primary microcephaly 10.0% 1/10
Current Height abnormalities 0% 0/10
Current Weight abnormalities 0% 0/10
Current Head circumference abnormalities 10.0% 1/10
< P3 : Microcephaly 10.0% 1/10
Neurology    
Neurological abnormalities 37.5% 3/8
Bilateral tonic-clonic seizure 12.5% 1/8
Hyperreflexia 12.5% 1/8
Hypotonia 12.5% 1/8
Spastic diplegia 12.5% 1/8
Brain abnormality 100.0% 10/10
Colpocephaly 40.0% 4/10
Hydrocephalus 30.0% 3/10
Hypoplasia of the corpus callosum 30.0% 3/10
Hypoplasia of the pons 30.0% 3/10
Lateral ventricle dilatation 30.0% 3/10
Abnormal cerebral white matter morphology 20.0% 2/10
Dilated third ventricle 20.0% 2/10
Polymicrogyria 20.0% 2/10
Thin corpus callosum 20.0% 2/10
Ventriculomegaly 20.0% 2/10
Abnormal corpus callosum morphology 10.0% 1/10
Abnormality of the anterior commissure 10.0% 1/10
Abnormal cerebellar cortex morphology 10.0% 1/10
Absent hippocampal commissure 10.0% 1/10
Agenesis of corpus callosum 10.0% 1/10
Cerebral atrophy 10.0% 1/10
Cortical dysplasia 10.0% 1/10
Probst bundles 10.0% 1/10
Schizencephaly 10.0% 1/10
Facial abnormalities    
Abnormality of the ear 25.0% 1/4
Low-set ears 25.0% 1/4
Abnormality of the eye 25.0% 1/4
Hypertelorism 25.0% 1/4
Narrow palpebral fissure 25.0% 1/4
Abnormality of the mouth 50.0% 2/4
High palate 50.0% 2/4
Microretrognathia 25.0% 1/4
Narrow palate 25.0% 1/4
Visual and hearing impairments    
Abnormal vision 22.2% 2/9
Strabismus 22.2% 2/9
Nystagmus 11.1% 1/9
Heart    
Abnormality of the heart 50.0% 4/8
Atrial septal defect 37.5% 3/8
Cardiorespiratory arrest 25.0% 2/8
Ventricular septal defect 25.0% 2/8
Pulmonic stenosis 12.5% 1/8
Right aortic arch with retroesophageal left subclavian artery 12.5% 1/8
Secundum atrial septal defect 12.5% 1/8
Subpulmonary stenosis 12.5% 1/8
Pulmonary    
Abnormality of the lungs 12.5% 1/8
Pneumonia 12.5% 1/8
Respiratory insufficiency 12.5% 1/8
Gastrointestinal    
Gastrointestinal abnormalities 75.0% 6/8
Abdominal distention 50.0% 4/8
Intestinal obstruction 37.5% 3/8
Vomiting 25.0% 2/8
Abnormal large intestine morphology 12.5% 1/8
Abnormal intestine morphology 12.5% 1/8
Ascites 12.5% 1/8
Bilious emesis 12.5% 1/8
Colonic stenosis 12.5% 1/8
Dehydration 12.5% 1/8
Gastrointestinal dysmotility 12.5% 1/8
Hematemesis 12.5% 1/8
Ileal atresia 12.5% 1/8
Intestinal ischemia 12.5% 1/8
Megacolon 12.5% 1/8
Small intestinal stenosis 12.5% 1/8
Skeleton    
Skeletal abnormalities 22.2% 2/9
Arthrogryposis multiplex congenita 11.1% 1/9
Brachydactyly 11.1% 1/9
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 12.5% 1/8
Synophrys 12.5% 1/8