Patient Overview : 4

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 100.0% 4/4
Female 0% 0/4
General    
Birth Length abnormalities 0% 0/4
Birth Weight abnormalities 0% 0/4
Birth Head circumference abnormalities 0% 0/4
Current Height abnormalities 0% 0/4
Current Weight abnormalities 0% 0/4
Current Head circumference abnormalities 0% 0/4
Neurology    
Neurological abnormalities 100.0% 4/4
Delayed speech and language development 75.0% 3/4
Delayed fine motor development 75.0% 3/4
Ataxia 50.0% 2/4
Delayed gross motor development 50.0% 2/4
Seizure 50.0% 2/4
Abnormality of movement 25.0% 1/4
Absent speech 25.0% 1/4
Cerebral palsy 25.0% 1/4
Generalized hypotonia 25.0% 1/4
Porencephalic cyst 25.0% 1/4
Behavioral problems 100.0% 4/4
Autism 75.0% 3/4
Aggressive behavior 50.0% 2/4
Hyperactivity 50.0% 2/4
Absent speech 25.0% 1/4
Attention deficit hyperactivity disorder 25.0% 1/4
Echolalia 25.0% 1/4
Emotional lability 25.0% 1/4
Motor stereotypy 25.0% 1/4
Recurrent hand flapping 25.0% 1/4
Reduced eye contact 25.0% 1/4
Self-injurious behavior 25.0% 1/4
Short attention span 25.0% 1/4
Sleep disturbance 25.0% 1/4
Brain abnormality 66.7% 2/3
Abnormal corpus callosum morphology 66.7% 2/3
Abnormal cerebral white matter morphology 33.3% 1/3
Abnormality of the tonsils 33.3% 1/3
Dilation of Virchow-Robin spaces 33.3% 1/3
EEG abnormality 33.3% 1/3
Pineal cyst 33.3% 1/3
Facial abnormalities    
Abnormality of the ear 33.3% 1/3
Abnormality of the outer ear 33.3% 1/3
Abnormality of the eye 100.0% 3/3
Strabismus 66.7% 2/3
Abnormally large globe 33.3% 1/3
Prominent glabella 33.3% 1/3
Abnormality of the mouth 66.7% 2/3
Dental malocclusion 33.3% 1/3
Open mouth 33.3% 1/3
Thick vermilion border 33.3% 1/3
Visual and hearing impairments    
Abnormal hearing 33.3% 1/3
Bilateral sensorineural hearing impairment 33.3% 1/3
Congenital sensorineural hearing impairment 33.3% 1/3
Abnormal vision 100.0% 3/3
Strabismus 66.7% 2/3
Amblyopia 33.3% 1/3
Myopia 33.3% 1/3
Posterior capsular cataract 33.3% 1/3
Gastrointestinal    
Gastrointestinal abnormalities 33.3% 1/3
Celiac disease 33.3% 1/3
Skeleton    
Skeletal abnormalities 66.7% 2/3
Abnormal anterior fontanelle morphology 33.3% 1/3
Hammertoe 33.3% 1/3
Long fingers 33.3% 1/3
Lower limb asymmetry 33.3% 1/3
Pes cavus 33.3% 1/3
Pes valgus 33.3% 1/3
Scoliosis 33.3% 1/3
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 66.7% 2/3
Abnormality of the hairline 33.3% 1/3
Abnormal hair whorl 33.3% 1/3
Nevus flammeus 33.3% 1/3
Widow's peak 33.3% 1/3
Endocrine / Immunological / Metabolic    
Abnormality of the immune system 50.0% 1/2
Otitis media 50.0% 1/2
Neoplasia    
Neoplasia 50.0% 1/2
Hemangioma 50.0% 1/2