Patient Overview : 5

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 60.0% 3/5
Female 40.0% 2/5
General    
Birth Length abnormalities 0% 0/9
Birth Weight abnormalities 0% 0/9
Birth Head circumference abnormalities 33.3% 3/9
< P3 : Congenital microcephaly 33.3% 3/9
Current Height abnormalities 0% 0/9
Current Weight abnormalities 11.1% 1/9
< P3 : Decreased body weight 11.1% 1/9
Current Head circumference abnormalities 55.6% 5/9
< P3 : Microcephaly 55.6% 5/9
Neurology    
Neurological abnormalities 50.0% 2/4
Babinski sign 50.0% 2/4
Generalized hypotonia 50.0% 2/4
Generalized tonic-clonic seizures 25.0% 1/4
Behavioral problems 75.0% 3/4
Aggressive behavior 25.0% 1/4
Anxiety 25.0% 1/4
Autism 25.0% 1/4
Drooling 25.0% 1/4
Head-banging 25.0% 1/4
Hyperactivity 25.0% 1/4
Hyperacusis 25.0% 1/4
Mood swings 25.0% 1/4
Poor eye contact 25.0% 1/4
Severe expressive language delay 25.0% 1/4
Sleep disturbance 25.0% 1/4
Brain abnormality 80.0% 4/5
Agenesis of corpus callosum 40.0% 2/5
Abnormality of the cerebellar vermis 20.0% 1/5
Abnormality of the corpus callosum 20.0% 1/5
Abnormality of the cerebral ventricles 20.0% 1/5
Aplasia/Hypoplasia of the cerebellar vermis 20.0% 1/5
Autistic behavior 20.0% 1/5
Bicoronal synostosis 20.0% 1/5
Cerebellar hemisphere hypoplasia 20.0% 1/5
Cerebellar vermis hypoplasia 20.0% 1/5
Colpocephaly 20.0% 1/5
Enlarged cisterna magna 20.0% 1/5
Hypoplasia of the pons 20.0% 1/5
Optic nerve hypoplasia 20.0% 1/5
Facial abnormalities    
Abnormality of the eye 100.0% 4/4
Deeply set eye 50.0% 2/4
Downslanted palpebral fissures 50.0% 2/4
Strabismus 50.0% 2/4
Proptosis 25.0% 1/4
Upslanted palpebral fissure 25.0% 1/4
Abnormality of the nose 25.0% 1/4
Abnormality of the nasal bridge 25.0% 1/4
Anteverted nares 25.0% 1/4
Abnormality of the mouth 50.0% 2/4
Mandibular prognathia 50.0% 2/4
Widely spaced teeth 50.0% 2/4
Wide mouth 50.0% 2/4
Microdontia 25.0% 1/4
Visual and hearing impairments    
Abnormal vision 33.3% 1/3
Cortical visual impairment 33.3% 1/3
Urogenital    
Abnormality of the urogenital system 50.0% 2/4
Neurogenic bladder 50.0% 2/4
Skeleton    
Skeletal abnormalities 100.0% 4/4
Delayed cranial suture closure 50.0% 2/4
Hypermobility of interphalangeal joints 50.0% 2/4
Long fingers 50.0% 2/4
Scoliosis 50.0% 2/4
Slender finger 50.0% 2/4
Abnormality of the frontal bone 25.0% 1/4
Abnormality of the occipital bone 25.0% 1/4
Abnormality of the parietal bone 25.0% 1/4
Abnormality of the shape of the midface 25.0% 1/4
Brachycephaly 25.0% 1/4
Coronal craniosynostosis 25.0% 1/4
Decreased skull ossification 25.0% 1/4
Microcephaly 25.0% 1/4
Prominent interphalangeal joints 25.0% 1/4
Shallow orbits 25.0% 1/4
Short stature 25.0% 1/4
Spina bifida occulta 25.0% 1/4
Tethered cord 25.0% 1/4
Thin calvarium 25.0% 1/4
Thoracic scoliosis 25.0% 1/4
Widely patent sagittal suture 25.0% 1/4
Neoplasia    
Neoplasia 25.0% 1/4
Sacral lipoma 25.0% 1/4