PRUNE1

Graph and Chart

Patient Overview : 37

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 40.5% 15/37
Female 56.8% 21/37
Indifferent 0% 0/37
Unknown 2.7% 1/37
General    
Birth Length abnormalities 5.4% 2/37
> P98 : Birth length greater than 97th percentile 2.7% 1/37
< P3 : Birth length less than 3rd percentile 2.7% 1/37
Birth Weight abnormalities 13.5% 5/37
< P3 : Small for gestational age 10.8% 4/37
> P98 : Large for gestational age 2.7% 1/37
Birth Head circumference abnormalities 10.8% 4/37
> P98 : Macrocephaly at birth 10.8% 4/37
Current Height abnormalities 27.0% 10/37
< P3 : Short stature 27.0% 10/37
Current Weight abnormalities 13.5% 5/37
< P3 : Decreased body weight 13.5% 5/37
Current Head circumference abnormalities 67.6% 25/37
< P3 : Microcephaly 67.6% 25/37
Neurology    
Neurological abnormalities 100.0% 35/35
Spasticity 65.7% 23/35
Muscular hypotonia 62.9% 22/35
Seizures 60.0% 21/35
Hyperreflexia 37.1% 13/35
Dysphagia 25.7% 9/35
Flexion contracture 20.0% 7/35
Infantile spasms 14.3% 5/35
Areflexia 11.4% 4/35
Brisk reflexes 11.4% 4/35
Epileptic spasms 11.4% 4/35
Dyskinesia 8.6% 3/35
Dystonia 8.6% 3/35
Poor head control 8.6% 3/35
Clonus 5.7% 2/35
Demyelinating motor neuropathy 5.7% 2/35
Generalized neonatal hypotonia 5.7% 2/35
Ankle clonus 2.9% 1/35
Apnea 2.9% 1/35
Arthrogryposis multiplex congenita 2.9% 1/35
Bulbar palsy 2.9% 1/35
Central hypotonia 2.9% 1/35
Demyelinating peripheral neuropathy 2.9% 1/35
Facial hypotonia 2.9% 1/35
Focal motor seizures 2.9% 1/35
Focal tonic seizures 2.9% 1/35
Focal myoclonic seizures 2.9% 1/35
Generalized hypotonia 2.9% 1/35
Generalized myoclonic seizures 2.9% 1/35
Hypertonia 2.9% 1/35
Infantile axial hypotonia 2.9% 1/35
Lower limb spasticity 2.9% 1/35
Nystagmus 2.9% 1/35
Reduced tendon reflexes 2.9% 1/35
Sleep apnea 2.9% 1/35
Spastic tetraparesis 2.9% 1/35
Tetraplegia 2.9% 1/35
Upper limb spasticity 2.9% 1/35
Behavioral problems 50.0% 2/4
Exaggerated startle response 25.0% 1/4
Poor eye contact 25.0% 1/4
Brain abnormality 96.4% 27/28
Cerebellar atrophy 50.0% 14/28
Cerebral atrophy 39.3% 11/28
Abnormality of the corpus callosum 35.7% 10/28
Delayed myelination 32.1% 9/28
Frontal cortical atrophy 17.9% 5/28
Cerebral cortical atrophy 7.1% 2/28
Hypsarrhythmia 7.1% 2/28
Abnormality of the periventricular white matter 3.6% 1/28
Abnormality of midbrain morphology 3.6% 1/28
Aplasia/Hypoplasia of the cerebellum 3.6% 1/28
Cerebellar hemorrhage 3.6% 1/28
Dilation of lateral ventricles 3.6% 1/28
Focal T2 hyperintense thalamic lesion 3.6% 1/28
Gliosis 3.6% 1/28
Global brain atrophy 3.6% 1/28
Hypointensity of cerebral white matter on MRI 3.6% 1/28
Inferior vermis hypoplasia 3.6% 1/28
Temporal cortical atrophy 3.6% 1/28
Ventriculomegaly 3.6% 1/28
Facial abnormalities    
Abnormality of the ear 37.5% 3/8
Low-set ears 25.0% 2/8
Macrotia 12.5% 1/8
Abnormality of the eye 25.0% 2/8
Epicanthus 12.5% 1/8
Hypertelorism 12.5% 1/8
Prominent epicanthal folds 12.5% 1/8
Abnormality of the nose 25.0% 2/8
Depressed nasal bridge 25.0% 2/8
Abnormality of the mouth 50.0% 4/8
Micrognathia 25.0% 2/8
Abnormality of the teeth 12.5% 1/8
High, narrow palate 12.5% 1/8
Retrognathia 12.5% 1/8
Widely spaced teeth 12.5% 1/8
Visual and hearing impairments    
Abnormal vision 72.2% 13/18
Optic atrophy 22.2% 4/18
Congenital cataract 16.7% 3/18
Cortical visual impairment 16.7% 3/18
Esotropia 11.1% 2/18
Abnormality of the iris 5.6% 1/18
Retinopathy 5.6% 1/18
Heart    
Abnormality of the heart 42.9% 3/7
Cardiac arrest 28.6% 2/7
Abnormality of the cardiac septa 14.3% 1/7
Arrhythmia 14.3% 1/7
Hypertrophic cardiomyopathy 14.3% 1/7
Left ventricular hypertrophy 14.3% 1/7
Pulmonary    
Abnormality of the lungs 83.3% 10/12
Respiratory insufficiency 25.0% 3/12
Respiratory distress 25.0% 3/12
Aspiration 16.7% 2/12
Pneumonia 16.7% 2/12
Central hypoventilation 8.3% 1/12
Recurrent aspiration pneumonia 8.3% 1/12
Gastrointestinal    
Gastrointestinal abnormalities 57.1% 4/7
Gastroesophageal reflux 42.9% 3/7
Feeding difficulties in infancy 14.3% 1/7
Skeleton    
Skeletal abnormalities 90.0% 18/20
Skeletal muscle atrophy 35.0% 7/20
Scoliosis 15.0% 3/20
Bilateral talipes equinovarus 10.0% 2/20
Knee flexion contracture 10.0% 2/20
Kyphoscoliosis 10.0% 2/20
Opisthotonus 10.0% 2/20
Talipes equinovarus 10.0% 2/20
Bell-shaped thorax 5.0% 1/20
Deviation of the 3rd toe 5.0% 1/20
Distal arthrogryposis 5.0% 1/20
Hip contracture 5.0% 1/20
Hip dysplasia 5.0% 1/20
Hip dislocation 5.0% 1/20
Limb joint contracture 5.0% 1/20
Limited elbow flexion 5.0% 1/20
Muscle fiber hypertrophy 5.0% 1/20
Pectus excavatum 5.0% 1/20
Short digit 5.0% 1/20
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 33.3% 2/6
Abnormal dermatoglyphics 16.7% 1/6
Hirsutism 16.7% 1/6
Hypoplastic nipples 16.7% 1/6