PURA
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 51.5% | 34/66 |
| Female | 48.5% | 32/66 |
| Indifferent | 0% | 0/66 |
| Unknown | 0% | 0/66 |
| General | ||
| Birth Length abnormalities | 1.5% | 1/66 |
| > P98 : Birth length greater than 97th percentile | 1.5% | 1/66 |
| Birth Weight abnormalities | 3.0% | 2/66 |
| > P98 : Large for gestational age | 3.0% | 2/66 |
| Birth Head circumference abnormalities | 1.5% | 1/66 |
| < P3 : Congenital microcephaly | 1.5% | 1/66 |
| Current Height abnormalities | 19.7% | 13/66 |
| < P3 : Short stature | 19.7% | 13/66 |
| Current Weight abnormalities | 13.6% | 9/66 |
| > P98 : Increased body weight | 7.6% | 5/66 |
| < P3 : Decreased body weight | 6.1% | 4/66 |
| Current Head circumference abnormalities | 6.1% | 4/66 |
| > P98 : Macrocephaly | 3.0% | 2/66 |
| < P3 : Microcephaly | 3.0% | 2/66 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 66/66 |
| Generalized hypotonia | 71.2% | 47/66 |
| Neonatal hypotonia | 54.5% | 36/66 |
| Global developmental delay | 31.8% | 21/66 |
| Exaggerated startle response | 25.8% | 17/66 |
| EEG abnormality | 18.2% | 12/66 |
| Infantile muscular hypotonia | 18.2% | 12/66 |
| Seizures | 16.7% | 11/66 |
| Abnormality of the nervous system | 13.6% | 9/66 |
| Developmental regression | 10.6% | 7/66 |
| Broad-based gait | 9.1% | 6/66 |
| Generalized tonic-clonic seizures | 7.6% | 5/66 |
| Horizontal nystagmus | 7.6% | 5/66 |
| Absence seizures | 6.1% | 4/66 |
| Atonic seizures | 6.1% | 4/66 |
| Gait disturbance | 6.1% | 4/66 |
| Nystagmus | 6.1% | 4/66 |
| Focal seizures with impairment of consciousness or awareness | 4.5% | 3/66 |
| Generalized seizures | 4.5% | 3/66 |
| Infantile spasms | 4.5% | 3/66 |
| Abnormality of movement | 3.0% | 2/66 |
| Ataxia | 3.0% | 2/66 |
| Decreased motor nerve conduction velocity | 3.0% | 2/66 |
| Gait ataxia | 3.0% | 2/66 |
| Spasticity | 3.0% | 2/66 |
| Unsteady gait | 3.0% | 2/66 |
| Abnormal peripheral action potential amplitude | 1.5% | 1/66 |
| Abnormal pyramidal signs | 1.5% | 1/66 |
| Babinski sign | 1.5% | 1/66 |
| Bilateral convulsive seizures | 1.5% | 1/66 |
| Bradykinesia | 1.5% | 1/66 |
| Decreased sensory nerve conduction velocity | 1.5% | 1/66 |
| Decreased amplitude of sensory action potentials | 1.5% | 1/66 |
| EEG with spike-wave complexes | 1.5% | 1/66 |
| EEG with temporal sharp waves | 1.5% | 1/66 |
| EMG | 1.5% | 1/66 |
| Encephalitis | 1.5% | 1/66 |
| Epileptic encephalopathy | 1.5% | 1/66 |
| Febrile seizures | 1.5% | 1/66 |
| Focal seizures | 1.5% | 1/66 |
| Focal clonic seizures | 1.5% | 1/66 |
| Focal seizures without impairment of consciousness or awareness | 1.5% | 1/66 |
| Generalized tonic seizures | 1.5% | 1/66 |
| Hypertonia | 1.5% | 1/66 |
| Involuntary movements | 1.5% | 1/66 |
| Limb hypertonia | 1.5% | 1/66 |
| Lower limb spasticity | 1.5% | 1/66 |
| Motor axonal neuropathy | 1.5% | 1/66 |
| Multifocal epileptiform discharges | 1.5% | 1/66 |
| Muscle fibrillation | 1.5% | 1/66 |
| Myoclonus | 1.5% | 1/66 |
| Peripheral axonal neuropathy | 1.5% | 1/66 |
| Reduced tendon reflexes | 1.5% | 1/66 |
| Severe global developmental delay | 1.5% | 1/66 |
| Status epilepticus | 1.5% | 1/66 |
| Stereotypic behavior | 1.5% | 1/66 |
| Stroke | 1.5% | 1/66 |
| Tethered cord | 1.5% | 1/66 |
| Toe walking | 1.5% | 1/66 |
| Tremor | 1.5% | 1/66 |
| Behavioral problems | 64.4% | 38/59 |
| Hypersomnia | 32.2% | 19/59 |
| Overfriendliness | 13.6% | 8/59 |
| Delayed social development | 11.9% | 7/59 |
| Stereotypic behavior | 11.9% | 7/59 |
| Abnormal social behavior | 10.2% | 6/59 |
| Exaggerated startle response | 8.5% | 5/59 |
| Autism | 5.1% | 3/59 |
| Impaired social interactions | 5.1% | 3/59 |
| Behavioral abnormality | 3.4% | 2/59 |
| Anxiety | 1.7% | 1/59 |
| Autistic behavior | 1.7% | 1/59 |
| Global developmental delay | 1.7% | 1/59 |
| Sleep disturbance | 1.7% | 1/59 |
| Brain abnormality | 62.1% | 36/58 |
| Delayed myelination | 17.2% | 10/58 |
| Dilation of lateral ventricles | 8.6% | 5/58 |
| Abnormality of the cerebral white matter | 6.9% | 4/58 |
| Cerebral white matter hypoplasia | 6.9% | 4/58 |
| Abnormality of the periventricular white matter | 3.4% | 2/58 |
| Extra-axial cerebrospinal fluid accumulation | 3.4% | 2/58 |
| Hypoplasia of the corpus callosum | 3.4% | 2/58 |
| Intracranial cystic lesion | 3.4% | 2/58 |
| Abnormality of brain morphology | 1.7% | 1/58 |
| Abnormality of the cerebellum | 1.7% | 1/58 |
| Abnormality of the corpus callosum | 1.7% | 1/58 |
| Brain atrophy | 1.7% | 1/58 |
| Cerebral atrophy | 1.7% | 1/58 |
| Corpus callosum atrophy | 1.7% | 1/58 |
| Enlarged brainstem | 1.7% | 1/58 |
| Enlarged sylvian cistern | 1.7% | 1/58 |
| Focal T2 hyperintense brainstem lesion | 1.7% | 1/58 |
| Gliosis | 1.7% | 1/58 |
| Perivascular spaces | 1.7% | 1/58 |
| Periventricular leukomalacia | 1.7% | 1/58 |
| Thick corpus callosum | 1.7% | 1/58 |
| Ventriculomegaly | 1.7% | 1/58 |
| Widened posterior fossa | 1.7% | 1/58 |
| Facial abnormalities | ||
| Abnormality of the ear | 22.0% | 9/41 |
| Low-set ears | 9.8% | 4/41 |
| Protruding ear | 9.8% | 4/41 |
| Downslanted palpebral fissures | 2.4% | 1/41 |
| Abnormality of the eye | 71.4% | 35/49 |
| Strabismus | 28.6% | 14/49 |
| Almond-shaped palpebral fissure | 16.3% | 8/49 |
| Telecanthus | 14.3% | 7/49 |
| Epicanthus | 12.2% | 6/49 |
| Hypertelorism | 10.2% | 5/49 |
| Prominent epicanthal folds | 10.2% | 5/49 |
| Ptosis | 10.2% | 5/49 |
| Upslanted palpebral fissure | 8.2% | 4/49 |
| Abnormality of the eyelid | 6.1% | 3/49 |
| Downslanted palpebral fissures | 4.1% | 2/49 |
| Esotropia | 4.1% | 2/49 |
| Anteverted nares | 2.0% | 1/49 |
| Bilateral ptosis | 2.0% | 1/49 |
| Congenital glaucoma | 2.0% | 1/49 |
| Exotropia | 2.0% | 1/49 |
| Short palpebral fissure | 2.0% | 1/49 |
| Abnormality of the nose | 26.8% | 11/41 |
| Depressed nasal bridge | 24.4% | 10/41 |
| Anteverted nares | 2.4% | 1/41 |
| Broad columella | 2.4% | 1/41 |
| Abnormality of the mouth | 35.0% | 14/40 |
| High palate | 22.5% | 9/40 |
| Open mouth | 7.5% | 3/40 |
| Tented upper lip vermilion | 7.5% | 3/40 |
| Abnormality of the teeth | 2.5% | 1/40 |
| Cleft soft palate | 2.5% | 1/40 |
| Drooling | 2.5% | 1/40 |
| Visual and hearing impairments | ||
| Abnormal vision | 29.5% | 18/61 |
| Cortical visual impairment | 8.2% | 5/61 |
| Nystagmus | 6.6% | 4/61 |
| Hypermetropia | 3.3% | 2/61 |
| Abnormality of vision | 1.6% | 1/61 |
| Abnormality of visual evoked potentials | 1.6% | 1/61 |
| Abnormality of refraction | 1.6% | 1/61 |
| Congenital glaucoma | 1.6% | 1/61 |
| High-grade hypermetropia | 1.6% | 1/61 |
| Myopia | 1.6% | 1/61 |
| Optic atrophy | 1.6% | 1/61 |
| Strabismus | 1.6% | 1/61 |
| Heart | ||
| Abnormality of the heart | 22.0% | 13/59 |
| Patent foramen ovale | 6.8% | 4/59 |
| Bradycardia | 3.4% | 2/59 |
| Ventricular septal defect | 3.4% | 2/59 |
| Abnormality of the systemic arterial tree | 1.7% | 1/59 |
| Muscular ventricular septal defect | 1.7% | 1/59 |
| Myocarditis | 1.7% | 1/59 |
| Patent ductus arteriosus after premature birth | 1.7% | 1/59 |
| Pulmonic stenosis | 1.7% | 1/59 |
| Pulmonary | ||
| Abnormality of the lungs | 85.7% | 6/7 |
| Hypopnea | 85.7% | 6/7 |
| Pneumonia | 28.6% | 2/7 |
| Abnormal respiratory system morphology | 14.3% | 1/7 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 96.7% | 58/60 |
| Feeding difficulties | 66.7% | 40/60 |
| Constipation | 51.7% | 31/60 |
| Dysphagia | 43.3% | 26/60 |
| Gastroesophageal reflux | 26.7% | 16/60 |
| Drooling | 10.0% | 6/60 |
| Gastrostomy tube feeding in infancy | 8.3% | 5/60 |
| Aspiration | 1.7% | 1/60 |
| Feeding difficulties in infancy | 1.7% | 1/60 |
| Poor suck | 1.7% | 1/60 |
| Urogenital | ||
| Abnormality of the urogenital system | 18.5% | 10/54 |
| Cryptorchidism | 7.4% | 4/54 |
| Abnormality of the genitourinary system | 3.7% | 2/54 |
| Nephrolithiasis | 3.7% | 2/54 |
| Abnormality of the urinary system | 1.9% | 1/54 |
| Congenital megaureter | 1.9% | 1/54 |
| External genital hypoplasia | 1.9% | 1/54 |
| Hydronephrosis | 1.9% | 1/54 |
| Hyperplastic labia majora | 1.9% | 1/54 |
| Unilateral cryptorchidism | 1.9% | 1/54 |
| Uric acid urolithiasis independent of gout | 1.9% | 1/54 |
| Uterine prolapse | 1.9% | 1/54 |
| Skeleton | ||
| Skeletal abnormalities | 62.1% | 36/58 |
| Scoliosis | 20.7% | 12/58 |
| Pes planus | 19.0% | 11/58 |
| Hip dysplasia | 13.8% | 8/58 |
| Small hand | 13.8% | 8/58 |
| Tapered finger | 13.8% | 8/58 |
| Joint laxity | 12.1% | 7/58 |
| Abnormality of the hand | 10.3% | 6/58 |
| Short foot | 10.3% | 6/58 |
| Abnormality of the foot | 6.9% | 4/58 |
| Reduced bone mineral density | 5.2% | 3/58 |
| Abnormality of the hip bone | 3.4% | 2/58 |
| Dolichocephaly | 3.4% | 2/58 |
| Hip Subluxation | 3.4% | 2/58 |
| Joint hypermobility | 3.4% | 2/58 |
| Long fingers | 3.4% | 2/58 |
| Abnormal bone ossification | 1.7% | 1/58 |
| Abnormality of the skull | 1.7% | 1/58 |
| Abnormality of the lower limb | 1.7% | 1/58 |
| Abnormality of toe | 1.7% | 1/58 |
| Abnormality of the hip joint | 1.7% | 1/58 |
| Broad proximal phalanges of the hand | 1.7% | 1/58 |
| Clinodactyly of the 5th finger | 1.7% | 1/58 |
| Coxa valga | 1.7% | 1/58 |
| Finger joint hypermobility | 1.7% | 1/58 |
| Genu valgum | 1.7% | 1/58 |
| Knee flexion contracture | 1.7% | 1/58 |
| Long hallux | 1.7% | 1/58 |
| Long toe | 1.7% | 1/58 |
| Osteopenia | 1.7% | 1/58 |
| Prominent frontal sinuses | 1.7% | 1/58 |
| Thoracolumbar scoliosis | 1.7% | 1/58 |
| Vertebral fusion | 1.7% | 1/58 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 22.0% | 11/50 |
| Soft skin | 12.0% | 6/50 |
| Abnormality of the palmar creases | 2.0% | 1/50 |
| Abnormality of skin pigmentation | 2.0% | 1/50 |
| Abnormality of subcutaneous fat tissue | 2.0% | 1/50 |
| Deep palmar crease | 2.0% | 1/50 |
| Eczema | 2.0% | 1/50 |
| Lipoma | 2.0% | 1/50 |
| Multiple cafe-au-lait spots | 2.0% | 1/50 |
| Nevus | 2.0% | 1/50 |
| Prominent fingertip pads | 2.0% | 1/50 |
| Regional abnormality of skin | 2.0% | 1/50 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 23.6% | 13/55 |
| Vitamin D deficiency | 16.4% | 9/55 |
| Hypothyroidism | 5.5% | 3/55 |
| Hypogonadotrophic hypogonadism | 3.6% | 2/55 |
| Compensated hypothyroidism | 1.8% | 1/55 |
| Premature thelarche | 1.8% | 1/55 |
| Puberty and gonadal disorders | 1.8% | 1/55 |
| Abnormality of the metabolic system | 11.3% | 6/53 |
| Neonatal hyperbilirubinemia | 7.5% | 4/53 |
| Abnormal serum iron | 1.9% | 1/53 |
| Hypercholesterolemia | 1.9% | 1/53 |
| Hypouricemia | 1.9% | 1/53 |
| Abnormality of the immune system | 9.4% | 5/53 |
| Allergy | 1.9% | 1/53 |
| Aspiration pneumonia | 1.9% | 1/53 |
| Esophagitis | 1.9% | 1/53 |
| Neutropenia | 1.9% | 1/53 |
| Recurrent lower respiratory tract infections | 1.9% | 1/53 |
| Neoplasia | ||
| Neoplasia | 1.7% | 1/59 |
| Retinoblastoma | 1.7% | 1/59 |