PACS1
| 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 cerebral white matter | 6.3% | 1/16 |
| Abnormality of the periventricular white matter | 6.3% | 1/16 |
| Cerebellar hemisphere hypoplasia | 6.3% | 1/16 |
| Cerebral white matter hypoplasia | 6.3% | 1/16 |
| Cerebellar atrophy | 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 |