PRUNE1
| 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 dislocation | 5.0% | 1/20 |
| Hip dysplasia | 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 |