PURA

Graph and Chart

Patient Overview : 58

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 48.3% 28/58
Female 51.7% 30/58
Indifferent 0% 0/58
Unknown 0% 0/58
General    
Birth Length abnormalities 0% 0/58
Birth Weight abnormalities 1.7% 1/58
> P98 : Large for gestational age 1.7% 1/58
Birth Head circumference abnormalities 0% 0/58
Current Height abnormalities 22.4% 13/58
< P3 : Short stature 22.4% 13/58
Current Weight abnormalities 15.5% 9/58
> P98 : Increased body weight 8.6% 5/58
< P3 : Decreased body weight 6.9% 4/58
Current Head circumference abnormalities 5.2% 3/58
> P98 : Macrocephaly 3.4% 2/58
< P3 : Microcephaly 1.7% 1/58
Neurology    
Neurological abnormalities 100.0% 58/58
Generalized hypotonia 67.2% 39/58
Neonatal hypotonia 62.1% 36/58
Global developmental delay 36.2% 21/58
Exaggerated startle response 29.3% 17/58
EEG abnormality 20.7% 12/58
Infantile muscular hypotonia 20.7% 12/58
Seizures 17.2% 10/58
Developmental regression 12.1% 7/58
Broad-based gait 10.3% 6/58
Generalized tonic-clonic seizures 8.6% 5/58
Horizontal nystagmus 8.6% 5/58
Absence seizures 6.9% 4/58
Atonic seizures 6.9% 4/58
Gait disturbance 6.9% 4/58
Nystagmus 6.9% 4/58
Focal seizures with impairment of consciousness or awareness 5.2% 3/58
Generalized seizures 5.2% 3/58
Infantile spasms 5.2% 3/58
Abnormality of movement 3.4% 2/58
Ataxia 3.4% 2/58
Decreased motor nerve conduction velocity 3.4% 2/58
Gait ataxia 3.4% 2/58
Spasticity 3.4% 2/58
Unsteady gait 3.4% 2/58
Abnormal peripheral action potential amplitude 1.7% 1/58
Abnormal pyramidal signs 1.7% 1/58
Babinski sign 1.7% 1/58
Bilateral convulsive seizures 1.7% 1/58
Bradykinesia 1.7% 1/58
Decreased amplitude of sensory action potentials 1.7% 1/58
Decreased sensory nerve conduction velocity 1.7% 1/58
EEG with temporal sharp waves 1.7% 1/58
EEG with spike-wave complexes 1.7% 1/58
EMG 1.7% 1/58
Encephalitis 1.7% 1/58
Epileptic encephalopathy 1.7% 1/58
Febrile seizures 1.7% 1/58
Focal clonic seizures 1.7% 1/58
Focal seizures without impairment of consciousness or awareness 1.7% 1/58
Focal seizures 1.7% 1/58
Generalized tonic seizures 1.7% 1/58
Hypertonia 1.7% 1/58
Involuntary movements 1.7% 1/58
Limb hypertonia 1.7% 1/58
Lower limb spasticity 1.7% 1/58
Motor axonal neuropathy 1.7% 1/58
Multifocal epileptiform discharges 1.7% 1/58
Muscle fibrillation 1.7% 1/58
Myoclonus 1.7% 1/58
Peripheral axonal neuropathy 1.7% 1/58
Severe global developmental delay 1.7% 1/58
Status epilepticus 1.7% 1/58
Stereotypic behavior 1.7% 1/58
Stroke 1.7% 1/58
Tethered cord 1.7% 1/58
Toe walking 1.7% 1/58
Tremor 1.7% 1/58
Behavioral problems 58.8% 30/51
Hypersomnia 37.3% 19/51
Overfriendliness 15.7% 8/51
Stereotypic behavior 13.7% 7/51
Abnormal social behavior 11.8% 6/51
Autism 5.9% 3/51
Impaired social interactions 5.9% 3/51
Behavioral abnormality 3.9% 2/51
Anxiety 2.0% 1/51
Autistic behavior 2.0% 1/51
Sleep disturbance 2.0% 1/51
Brain abnormality 60.8% 31/51
Delayed myelination 19.6% 10/51
Dilation of lateral ventricles 9.8% 5/51
Abnormality of the cerebral white matter 7.8% 4/51
Cerebral white matter hypoplasia 7.8% 4/51
Abnormality of the periventricular white matter 3.9% 2/51
Extra-axial cerebrospinal fluid accumulation 3.9% 2/51
Hypoplasia of the corpus callosum 3.9% 2/51
Intracranial cystic lesion 3.9% 2/51
Abnormality of the cerebellum 2.0% 1/51
Abnormality of the corpus callosum 2.0% 1/51
Abnormality of brain morphology 2.0% 1/51
Brain atrophy 2.0% 1/51
Cerebral atrophy 2.0% 1/51
Corpus callosum atrophy 2.0% 1/51
Enlarged brainstem 2.0% 1/51
Enlarged sylvian cistern 2.0% 1/51
Focal T2 hyperintense brainstem lesion 2.0% 1/51
Gliosis 2.0% 1/51
Periventricular leukomalacia 2.0% 1/51
Perivascular spaces 2.0% 1/51
Thick corpus callosum 2.0% 1/51
Ventriculomegaly 2.0% 1/51
Widened posterior fossa 2.0% 1/51
Facial abnormalities    
Abnormality of the ear 17.1% 6/35
Protruding ear 11.4% 4/35
Downslanted palpebral fissures 2.9% 1/35
Low-set ears 2.9% 1/35
Abnormality of the eye 66.7% 28/42
Strabismus 33.3% 14/42
Almond-shaped palpebral fissure 19.0% 8/42
Epicanthus 14.3% 6/42
Abnormality of the eyelid 7.1% 3/42
Downslanted palpebral fissures 4.8% 2/42
Esotropia 4.8% 2/42
Bilateral ptosis 2.4% 1/42
Congenital glaucoma 2.4% 1/42
Exotropia 2.4% 1/42
Hypertelorism 2.4% 1/42
Ptosis 2.4% 1/42
Short palpebral fissure 2.4% 1/42
Telecanthus 2.4% 1/42
Abnormality of the nose 11.8% 4/34
Depressed nasal bridge 8.8% 3/34
Anteverted nares 2.9% 1/34
Broad columella 2.9% 1/34
Abnormality of the mouth 28.6% 10/35
High palate 22.9% 8/35
Open mouth 5.7% 2/35
Drooling 2.9% 1/35
Tented upper lip vermilion 2.9% 1/35
Visual and hearing impairments    
Abnormal vision 23.6% 13/55
Cortical visual impairment 9.1% 5/55
Hypermetropia 3.6% 2/55
Abnormality of vision 1.8% 1/55
Abnormality of refraction 1.8% 1/55
Abnormality of visual evoked potentials 1.8% 1/55
Congenital glaucoma 1.8% 1/55
High-grade hypermetropia 1.8% 1/55
Myopia 1.8% 1/55
Optic atrophy 1.8% 1/55
Heart    
Abnormality of the heart 18.9% 10/53
Patent foramen ovale 5.7% 3/53
Bradycardia 3.8% 2/53
Ventricular septal defect 3.8% 2/53
Abnormality of the systemic arterial tree 1.9% 1/53
Muscular ventricular septal defect 1.9% 1/53
Patent ductus arteriosus after premature birth 1.9% 1/53
Pulmonic stenosis 1.9% 1/53
Gastrointestinal    
Gastrointestinal abnormalities 96.2% 51/53
Feeding difficulties 75.5% 40/53
Constipation 50.9% 27/53
Dysphagia 37.7% 20/53
Gastroesophageal reflux 28.3% 15/53
Gastrostomy tube feeding in infancy 9.4% 5/53
Drooling 3.8% 2/53
Aspiration 1.9% 1/53
Poor suck 1.9% 1/53
Urogenital    
Abnormality of the urogenital system 17.3% 9/52
Cryptorchidism 5.8% 3/52
Nephrolithiasis 3.8% 2/52
Abnormality of the urinary system 1.9% 1/52
Congenital megaureter 1.9% 1/52
External genital hypoplasia 1.9% 1/52
Hydronephrosis 1.9% 1/52
Hyperplastic labia majora 1.9% 1/52
Unilateral cryptorchidism 1.9% 1/52
Uric acid urolithiasis independent of gout 1.9% 1/52
Uterine prolapse 1.9% 1/52
Skeleton    
Skeletal abnormalities 62.3% 33/53
Scoliosis 22.6% 12/53
Pes planus 20.8% 11/53
Hip dysplasia 15.1% 8/53
Small hand 15.1% 8/53
Tapered finger 15.1% 8/53
Abnormality of the hand 11.3% 6/53
Joint laxity 11.3% 6/53
Short foot 11.3% 6/53
Abnormality of the foot 7.5% 4/53
Abnormality of the hip bone 3.8% 2/53
Dolichocephaly 3.8% 2/53
Joint hypermobility 3.8% 2/53
Long fingers 3.8% 2/53
Reduced bone mineral density 3.8% 2/53
Abnormality of toe 1.9% 1/53
Abnormal bone ossification 1.9% 1/53
Abnormality of the lower limb 1.9% 1/53
Abnormality of the skull 1.9% 1/53
Abnormality of the hip joint 1.9% 1/53
Broad proximal phalanges of the hand 1.9% 1/53
Clinodactyly of the 5th finger 1.9% 1/53
Coxa valga 1.9% 1/53
Finger joint hypermobility 1.9% 1/53
Genu valgum 1.9% 1/53
Hip Subluxation 1.9% 1/53
Knee flexion contracture 1.9% 1/53
Long hallux 1.9% 1/53
Long toe 1.9% 1/53
Osteopenia 1.9% 1/53
Prominent frontal sinuses 1.9% 1/53
Thoracolumbar scoliosis 1.9% 1/53
Vertebral fusion 1.9% 1/53
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 20.8% 10/48
Soft skin 12.5% 6/48
Abnormality of subcutaneous fat tissue 2.1% 1/48
Abnormality of the palmar creases 2.1% 1/48
Abnormality of skin pigmentation 2.1% 1/48
Deep palmar crease 2.1% 1/48
Eczema 2.1% 1/48
Lipoma 2.1% 1/48
Nevus 2.1% 1/48
Prominent fingertip pads 2.1% 1/48
Regional abnormality of skin 2.1% 1/48
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 21.2% 11/52
Vitamin D deficiency 13.5% 7/52
Hypothyroidism 5.8% 3/52
Hypogonadotrophic hypogonadism 3.8% 2/52
Compensated hypothyroidism 1.9% 1/52
Premature thelarche 1.9% 1/52
Puberty and gonadal disorders 1.9% 1/52
Abnormality of the metabolic system 11.5% 6/52
Neonatal hyperbilirubinemia 7.7% 4/52
Abnormal serum iron 1.9% 1/52
Hypercholesterolemia 1.9% 1/52
Hypouricemia 1.9% 1/52
Abnormality of the immune system 9.6% 5/52
Allergy 1.9% 1/52
Aspiration pneumonia 1.9% 1/52
Esophagitis 1.9% 1/52
Neutropenia 1.9% 1/52
Recurrent lower respiratory tract infections 1.9% 1/52
Neoplasia    
Neoplasia 1.9% 1/52
Retinoblastoma 1.9% 1/52