PACS1

Graph and Chart

Patient Overview : 21

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 61.9% 13/21
Female 38.1% 8/21
Indifferent 0% 0/21
Unknown 0% 0/21
General    
Birth Length abnormalities 0% 0/1
Birth Weight abnormalities 50.0% 1/2
< P3 : Small for gestational age 50.0% 1/2
Birth Head circumference abnormalities 0% 0/1
Current Height abnormalities 50.0% 2/4
< P3 : Short stature 50.0% 2/4
Current Weight abnormalities 0% 0/2
Current Head circumference abnormalities 30.8% 4/13
< P3 : Microcephaly 30.8% 4/13
Neurology    
Neurological abnormalities 85.7% 18/21
Seizures 57.1% 12/21
Generalized hypotonia 38.1% 8/21
Central hypotonia 4.8% 1/21
Dystonia 4.8% 1/21
Hypertonia 4.8% 1/21
Intellectual disability, severe 4.8% 1/21
Language impairment 4.8% 1/21
Neurodevelopmental delay 4.8% 1/21
Progressive gait ataxia 4.8% 1/21
Unsteady gait 4.8% 1/21
Behavioral problems 81.0% 17/21
Oral aversion 52.4% 11/21
Aggressive behavior 47.6% 10/21
Autistic behavior 28.6% 6/21
Sleep disturbance 19.0% 4/21
Anxiety 4.8% 1/21
Autism 4.8% 1/21
Personality disorder 4.8% 1/21
Polyphagia 4.8% 1/21
Brain abnormality 75.0% 12/16
Cerebellar vermis hypoplasia 25.0% 4/16
Communicating hydrocephalus 12.5% 2/16
Delayed myelination 12.5% 2/16
Abnormality of the periventricular white matter 6.3% 1/16
Abnormality of the cerebral white matter 6.3% 1/16
Cerebellar hemisphere hypoplasia 6.3% 1/16
Cerebellar atrophy 6.3% 1/16
Cerebral white matter hypoplasia 6.3% 1/16
Colpocephaly 6.3% 1/16
Cortical dysplasia 6.3% 1/16
Diffuse cerebral atrophy 6.3% 1/16
Enlarged cisterna magna 6.3% 1/16
Hypoplasia of the corpus callosum 6.3% 1/16
Hypoplasia of the frontal lobes 6.3% 1/16
Ventriculomegaly 6.3% 1/16
Facial abnormalities    
Abnormality of the ear 66.7% 2/3
Abnormality of the face 33.3% 1/3
Low-set ears 33.3% 1/3
Abnormality of the eye 100.0% 4/4
Hypertelorism 50.0% 2/4
Long eyelashes 50.0% 2/4
Abnormality of the face 25.0% 1/4
Anisocoria 25.0% 1/4
Broad eyebrow 25.0% 1/4
Epicanthus 25.0% 1/4
Highly arched eyebrow 25.0% 1/4
Long palpebral fissure 25.0% 1/4
Thick eyebrow 25.0% 1/4
Abnormality of the nose 66.7% 2/3
Abnormality of the face 33.3% 1/3
Bulbous nose 33.3% 1/3
Abnormality of the mouth 75.0% 3/4
Abnormality of upper lip vermillion 25.0% 1/4
Bifid uvula 25.0% 1/4
Dental crowding 25.0% 1/4
High palate 25.0% 1/4
Persistence of primary teeth 25.0% 1/4
Short lingual frenulum 25.0% 1/4
Submucous cleft hard palate 25.0% 1/4
Thin upper lip vermilion 25.0% 1/4
Visual and hearing impairments    
Abnormal hearing 10.5% 2/19
Bilateral sensorineural hearing impairment 5.3% 1/19
Hearing impairment 5.3% 1/19
Abnormal vision 55.0% 11/20
Myopia 25.0% 5/20
Strabismus 15.0% 3/20
Astigmatism 10.0% 2/20
Coloboma 10.0% 2/20
Nystagmus 10.0% 2/20
Abnormality of the optic disc 5.0% 1/20
Congenital nystagmus 5.0% 1/20
Hypermetropia 5.0% 1/20
Optic nerve coloboma 5.0% 1/20
Unilateral ptosis 5.0% 1/20
Heart    
Abnormality of the heart 52.4% 11/21
Patent ductus arteriosus 23.8% 5/21
Atria septal defect 19.0% 4/21
Ventricular septal defect 19.0% 4/21
Patent foramen ovale 9.5% 2/21
Abnormality of the tricuspid valve 4.8% 1/21
Aortic regurgitation 4.8% 1/21
Bicuspid aortic valve 4.8% 1/21
Dysplastic aortic valve 4.8% 1/21
Dysplastic pulmonary valve 4.8% 1/21
Persistent left superior vena cava 4.8% 1/21
Prolonged QT interval 4.8% 1/21
Pulmonary insufficiency 4.8% 1/21
Gastrointestinal    
Gastrointestinal abnormalities 71.4% 15/21
Constipation 42.9% 9/21
Gastroesophageal reflux 28.6% 6/21
Gastrostomy tube feeding in infancy 23.8% 5/21
Inguinal hernia 14.3% 3/21
Umbilical hernia 14.3% 3/21
Anal fistula 4.8% 1/21
Anorectal anomaly 4.8% 1/21
Ectopic anus 4.8% 1/21
Gastroparesis 4.8% 1/21
Urogenital    
Abnormality of the urogenital system 47.6% 10/21
Cryptorchidism 28.6% 6/21
Renal duplication 9.5% 2/21
Renal cyst 4.8% 1/21
Testicular microlithiasis 4.8% 1/21
Urethral diverticulum 4.8% 1/21
Urinary incontinence 4.8% 1/21
Skeleton    
Skeletal abnormalities 57.1% 12/21
Clinodactyly of the 5th finger 23.8% 5/21
Pes planus 19.0% 4/21
Pectus excavatum 14.3% 3/21
Plagiocephaly 9.5% 2/21
Scoliosis 9.5% 2/21
Brachycephaly 4.8% 1/21
Cervical ribs 4.8% 1/21
Cranial asymmetry 4.8% 1/21
Delayed skeletal maturation 4.8% 1/21
Sagittal craniosynostosis 4.8% 1/21
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 35.0% 7/20
Single transverse palmar crease 15.0% 3/20
Abnormal dermatoglyphics 5.0% 1/20
Clubbing 5.0% 1/20
Curly hair 5.0% 1/20
Melanocytic nevus 5.0% 1/20
Urticaria 5.0% 1/20
Endocrine / Immunological / Metabolic    
Abnormality of the immune system 27.8% 5/18
IgA deficiency 5.6% 1/18
Leukopenia 5.6% 1/18
Neutropenia 5.6% 1/18
Recurrent infections 5.6% 1/18
Recurrent upper respiratory tract infections 5.6% 1/18