CHKB

Graph and Chart



Patient Overview : 48

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 56.3% 27/48
Female 43.8% 21/48
Indifferent 0% 0/48
Unknown 0% 0/48
General    
Birth Length abnormalities 0% 0/48
Birth Weight abnormalities 0% 0/48
Birth Head circumference abnormalities 0% 0/48
Current Height abnormalities 0% 0/48
Current Weight abnormalities 0% 0/48
Current Head circumference abnormalities 18.8% 9/48
< P3 : Microcephaly 18.8% 9/48
Neurology    
Neurological abnormalities 18.8% 9/48
Generalized seizures 10.4% 5/48
Seizures 6.3% 3/48
Generalized tonic seizures 2.1% 1/48
Behavioral problems 45.8% 22/48
Autism 37.5% 18/48
Attention deficit hyperactivity disorder 6.3% 3/48
Mutism 2.1% 1/48
Brain abnormality 30.0% 9/30
Abnormal brain choline/creatine ratio by MRS 6.7% 2/30
Hypoplasia of the corpus callosum 6.7% 2/30
Abnormal metabolic brain imaging by MRS 3.3% 1/30
Cavum septum pellucidum 3.3% 1/30
Delayed myelination 3.3% 1/30
Dilation of lateral ventricles 3.3% 1/30
Enlarged cisterna magna 3.3% 1/30
Visual and hearing impairments    
Abnormal hearing 4.2% 2/48
Sensorineural hearing impairment 4.2% 2/48
Heart    
Abnormality of the heart 43.9% 18/41
Dilated cardiomyopathy 36.6% 15/41
Congestive heart failure 9.8% 4/41
Sudden cardiac death 7.3% 3/41
Mitral valve prolapse 2.4% 1/41
Patent ductus arteriosus 2.4% 1/41
Secundum atrial septal defect 2.4% 1/41
Gastrointestinal    
Gastrointestinal abnormalities 4.2% 2/48
Acute pancreatitis 2.1% 1/48
Feeding difficulties 2.1% 1/48
Skeleton    
Skeletal abnormalities 2.1% 1/48
Scoliosis 2.1% 1/48
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 45.7% 21/46
Ichthyosis 43.5% 20/46
Eczema 4.3% 2/46
Atopic dermatitis 2.2% 1/46