P4HTM

Graph & Charts

Patient Overview : 14

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 64.3% 9/14
Female 35.7% 5/14
Indifferent 0% 0/14
Unknown 0% 0/14
General    
Birth Length abnormalities 21.4% 3/14
< P3 : Birth length less than 3rd percentile 21.4% 3/14
Birth Weight abnormalities 14.3% 2/14
< P3 : Small for gestational age 14.3% 2/14
Birth Head circumference abnormalities 7.1% 1/14
< P3 : Congenital microcephaly 7.1% 1/14
Current Height abnormalities 42.9% 6/14
> P98 : Tall stature 28.6% 4/14
< P3 : Short stature 14.3% 2/14
Current Weight abnormalities 50.0% 7/14
> P98 : Increased body weight 35.7% 5/14
< P3 : Decreased body weight 14.3% 2/14
Current Head circumference abnormalities 35.7% 5/14
< P3 : Microcephaly 35.7% 5/14
Neurology    
Neurological abnormalities 100.0% 14/14
Muscular hypotonia 92.9% 13/14
Central sleep apnea 35.7% 5/14
Seizures 35.7% 5/14
Dysphagia 21.4% 3/14
Facial hypotonia 21.4% 3/14
Nystagmus 21.4% 3/14
Obstructive sleep apnea 21.4% 3/14
Dyskinesia 7.1% 1/14
Focal seizures 7.1% 1/14
Generalized seizures 7.1% 1/14
Rotary nystagmus 7.1% 1/14
Severe muscular hypotonia 7.1% 1/14
Behavioral problems 25.0% 2/8
Autistic behavior 12.5% 1/8
Irritability 12.5% 1/8
Polyphagia 12.5% 1/8
Brain abnormality 77.8% 7/9
Brain atrophy 22.2% 2/9
Delayed myelination 22.2% 2/9
EEG abnormality 22.2% 2/9
Ventriculomegaly 11.1% 1/9
Widened subarachnoid space 11.1% 1/9
Facial abnormalities    
Abnormality of the eye 71.4% 5/7
Deeply set eye 42.9% 3/7
Long palpebral fissure 14.3% 1/7
Long eyelashes 14.3% 1/7
Synophrys 14.3% 1/7
Upslanted palpebral fissure 14.3% 1/7
Abnormality of the nose 28.6% 2/7
Prominent nasal bridge 14.3% 1/7
Short nose 14.3% 1/7
Abnormality of the mouth 57.1% 4/7
Smooth philtrum 42.9% 3/7
Pointed chin 14.3% 1/7
Visual and hearing impairments    
Abnormal vision 90.9% 10/11
Exotropia 45.5% 5/11
Visual impairment 36.4% 4/11
Amblyopia 27.3% 3/11
Strabismus 27.3% 3/11
Cortical visual impairment 18.2% 2/11
Myopia 18.2% 2/11
Alternating esotropia 9.1% 1/11
Hypermetropia 9.1% 1/11
Optic atrophy 9.1% 1/11
Temporal optic disc pallor 9.1% 1/11
Pulmonary    
Abnormality of the lungs 85.7% 12/14
Abnormal pattern of respiration 35.7% 5/14
Hypoventilation 35.7% 5/14
Recurrent pneumonia 35.7% 5/14
Pneumonia 21.4% 3/14
Respiratory distress 14.3% 2/14
Bronchiolitis 7.1% 1/14
Respiratory insufficiency 7.1% 1/14
Gastrointestinal    
Gastrointestinal abnormalities 80.0% 8/10
Gastroesophageal reflux 50.0% 5/10
Constipation 30.0% 3/10
Esophagitis 10.0% 1/10
Feeding difficulties 10.0% 1/10
Feeding difficulties in infancy 10.0% 1/10
Hepatomegaly 10.0% 1/10
Hepatic steatosis 10.0% 1/10
Urogenital    
Abnormality of the urogenital system 9.1% 1/11
Hydronephrosis 9.1% 1/11
Skeleton    
Skeletal abnormalities 41.7% 5/12
Pes planus 16.7% 2/12
Abnormality of muscle fibers 8.3% 1/12
Accelerated skeletal maturation 8.3% 1/12
Fractures of the long bones 8.3% 1/12
Scoliosis 8.3% 1/12
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 50.0% 1/2
Hypothyroidism 50.0% 1/2
Abnormality of the immune system 100.0% 3/3
Respiratory tract infection 66.7% 2/3
Respiratory infections in early life 33.3% 1/3