PACS1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 58.8% | 20/34 |
| Female | 41.2% | 14/34 |
| Indifferent | 0% | 0/34 |
| Unknown | 0% | 0/34 |
| General | ||
| Birth Length abnormalities | 7.1% | 1/14 |
| > P98 : Birth length greater than 97th percentile | 7.1% | 1/14 |
| Birth Weight abnormalities | 6.7% | 1/15 |
| < P3 : Small for gestational age | 6.7% | 1/15 |
| Birth Head circumference abnormalities | 7.1% | 1/14 |
| > P98 : Macrocephaly at birth | 7.1% | 1/14 |
| Current Height abnormalities | 23.5% | 4/17 |
| < P3 : Short stature | 17.6% | 3/17 |
| > P98 : Tall stature | 5.9% | 1/17 |
| Current Weight abnormalities | 13.3% | 2/15 |
| < P3 : Decreased body weight | 13.3% | 2/15 |
| Current Head circumference abnormalities | 30.8% | 8/26 |
| < P3 : Microcephaly | 30.8% | 8/26 |
| Neurology | ||
| Neurological abnormalities | 81.8% | 27/33 |
| Seizures | 45.5% | 15/33 |
| Generalized hypotonia | 30.3% | 10/33 |
| Generalized tonic-clonic seizures | 6.1% | 2/33 |
| Generalized tonic seizures | 6.1% | 2/33 |
| Ataxia | 3.0% | 1/33 |
| Central hypotonia | 3.0% | 1/33 |
| Dystonia | 3.0% | 1/33 |
| Hypertonia | 3.0% | 1/33 |
| Intellectual disability, severe | 3.0% | 1/33 |
| Language impairment | 3.0% | 1/33 |
| Myotonia | 3.0% | 1/33 |
| Neonatal hypotonia | 3.0% | 1/33 |
| Neurodevelopmental delay | 3.0% | 1/33 |
| Progressive gait ataxia | 3.0% | 1/33 |
| Unsteady gait | 3.0% | 1/33 |
| Behavioral problems | 84.4% | 27/32 |
| Aggressive behavior | 34.4% | 11/32 |
| Oral aversion | 34.4% | 11/32 |
| Autistic behavior | 18.8% | 6/32 |
| Sleep disturbance | 12.5% | 4/32 |
| Anxiety | 9.4% | 3/32 |
| Inappropriate laughter | 9.4% | 3/32 |
| Autism | 6.3% | 2/32 |
| Severe global developmental delay | 6.3% | 2/32 |
| Stereotypic behavior | 6.3% | 2/32 |
| Abnormality of movement | 3.1% | 1/32 |
| Attention deficit hyperactivity disorder | 3.1% | 1/32 |
| Cognitive impairment | 3.1% | 1/32 |
| Irritability | 3.1% | 1/32 |
| Obsessive-compulsive behavior | 3.1% | 1/32 |
| Personality disorder | 3.1% | 1/32 |
| Polyphagia | 3.1% | 1/32 |
| Repetitive compulsive behavior | 3.1% | 1/32 |
| Self-injurious behavior | 3.1% | 1/32 |
| Brain abnormality | 67.9% | 19/28 |
| Cerebellar vermis hypoplasia | 14.3% | 4/28 |
| Cerebral atrophy | 7.1% | 2/28 |
| Communicating hydrocephalus | 7.1% | 2/28 |
| Delayed myelination | 7.1% | 2/28 |
| Abnormality of the corpus callosum | 3.6% | 1/28 |
| Abnormality of the cerebral white matter | 3.6% | 1/28 |
| Abnormality of the periventricular white matter | 3.6% | 1/28 |
| Cerebral white matter hypoplasia | 3.6% | 1/28 |
| Cerebellar atrophy | 3.6% | 1/28 |
| Cerebellar hemisphere hypoplasia | 3.6% | 1/28 |
| Colpocephaly | 3.6% | 1/28 |
| Cortical dysplasia | 3.6% | 1/28 |
| Diffuse cerebral atrophy | 3.6% | 1/28 |
| EEG with irregular generalized spike and wave complexes | 3.6% | 1/28 |
| EEG with generalized sharp slow waves | 3.6% | 1/28 |
| Enlarged cisterna magna | 3.6% | 1/28 |
| Frontal cortical atrophy | 3.6% | 1/28 |
| Hypoplasia of the frontal lobes | 3.6% | 1/28 |
| Hypoplasia of the corpus callosum | 3.6% | 1/28 |
| Hypsarrhythmia | 3.6% | 1/28 |
| Intracranial hemorrhage | 3.6% | 1/28 |
| Myelomeningocele | 3.6% | 1/28 |
| Periventricular leukomalacia | 3.6% | 1/28 |
| Prominent metopic ridge | 3.6% | 1/28 |
| Subependymal nodules | 3.6% | 1/28 |
| Temporal cortical atrophy | 3.6% | 1/28 |
| Ventriculomegaly | 3.6% | 1/28 |
| Facial abnormalities | ||
| Abnormality of the ear | 37.5% | 6/16 |
| Low-set ears | 31.3% | 5/16 |
| Abnormality of the face | 6.3% | 1/16 |
| Abnormality of the eye | 88.2% | 15/17 |
| Hypertelorism | 41.2% | 7/17 |
| Downslanted palpebral fissures | 35.3% | 6/17 |
| Long eyelashes | 23.5% | 4/17 |
| Long palpebral fissure | 23.5% | 4/17 |
| Anteverted nares | 17.6% | 3/17 |
| Telecanthus | 17.6% | 3/17 |
| Epicanthus | 11.8% | 2/17 |
| Eversion of lateral third of lower eyelids | 11.8% | 2/17 |
| Iris coloboma | 11.8% | 2/17 |
| Abnormality of the sclera | 5.9% | 1/17 |
| Abnormality of the face | 5.9% | 1/17 |
| Almond-shaped palpebral fissure | 5.9% | 1/17 |
| Anisocoria | 5.9% | 1/17 |
| Bilateral retinal coloboma | 5.9% | 1/17 |
| Broad eyebrow | 5.9% | 1/17 |
| Coloboma | 5.9% | 1/17 |
| Esotropia | 5.9% | 1/17 |
| Highly arched eyebrow | 5.9% | 1/17 |
| Hypotelorism | 5.9% | 1/17 |
| Microcornea | 5.9% | 1/17 |
| obsolete Bilateral choroid coloboma | 5.9% | 1/17 |
| Thick eyebrow | 5.9% | 1/17 |
| Abnormality of the nose | 87.5% | 14/16 |
| Bulbous nose | 75.0% | 12/16 |
| Broad nasal tip | 12.5% | 2/16 |
| Abnormality of the face | 6.3% | 1/16 |
| Depressed nasal bridge | 6.3% | 1/16 |
| Short nasal bridge | 6.3% | 1/16 |
| Short nose | 6.3% | 1/16 |
| Abnormality of the mouth | 82.4% | 14/17 |
| Thin upper lip vermilion | 64.7% | 11/17 |
| Wide mouth | 52.9% | 9/17 |
| Downturned corners of mouth | 41.2% | 7/17 |
| Long philtrum | 23.5% | 4/17 |
| Smooth philtrum | 23.5% | 4/17 |
| Widely spaced teeth | 17.6% | 3/17 |
| High palate | 11.8% | 2/17 |
| Tented upper lip vermilion | 11.8% | 2/17 |
| Abnormality of upper lip vermillion | 5.9% | 1/17 |
| Bifid uvula | 5.9% | 1/17 |
| Dental crowding | 5.9% | 1/17 |
| Diastema | 5.9% | 1/17 |
| Peg-shaped maxillary lateral incisors | 5.9% | 1/17 |
| Persistence of primary teeth | 5.9% | 1/17 |
| Short philtrum | 5.9% | 1/17 |
| Short lingual frenulum | 5.9% | 1/17 |
| Submucous cleft hard palate | 5.9% | 1/17 |
| Unilateral cleft lip | 5.9% | 1/17 |
| Visual and hearing impairments | ||
| Abnormal hearing | 10.3% | 3/29 |
| Bilateral sensorineural hearing impairment | 3.4% | 1/29 |
| Conductive hearing impairment | 3.4% | 1/29 |
| Hearing impairment | 3.4% | 1/29 |
| Abnormal vision | 61.3% | 19/31 |
| Myopia | 22.6% | 7/31 |
| Strabismus | 16.1% | 5/31 |
| Coloboma | 9.7% | 3/31 |
| Iris coloboma | 9.7% | 3/31 |
| Nystagmus | 9.7% | 3/31 |
| Retinal coloboma | 9.7% | 3/31 |
| Abnormality of refraction | 6.5% | 2/31 |
| Astigmatism | 6.5% | 2/31 |
| Optic nerve coloboma | 6.5% | 2/31 |
| Abnormality of the optic disc | 3.2% | 1/31 |
| Central retinal vessel vascular tortuosity | 3.2% | 1/31 |
| Congenital nystagmus | 3.2% | 1/31 |
| Congenital nuclear cataract | 3.2% | 1/31 |
| Corneal ulceration | 3.2% | 1/31 |
| Hypermetropia | 3.2% | 1/31 |
| Unilateral ptosis | 3.2% | 1/31 |
| Heart | ||
| Abnormality of the heart | 41.9% | 13/31 |
| Patent ductus arteriosus | 16.1% | 5/31 |
| Ventricular septal defect | 16.1% | 5/31 |
| Atria septal defect | 12.9% | 4/31 |
| Patent foramen ovale | 9.7% | 3/31 |
| Bicuspid aortic valve | 6.5% | 2/31 |
| Abnormality of the tricuspid valve | 3.2% | 1/31 |
| Aortic regurgitation | 3.2% | 1/31 |
| Dysplastic pulmonary valve | 3.2% | 1/31 |
| Dysplastic aortic valve | 3.2% | 1/31 |
| Heart murmur | 3.2% | 1/31 |
| Persistent left superior vena cava | 3.2% | 1/31 |
| Prolonged QT interval | 3.2% | 1/31 |
| Pulmonary insufficiency | 3.2% | 1/31 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 65.6% | 21/32 |
| Constipation | 46.9% | 15/32 |
| Gastroesophageal reflux | 21.9% | 7/32 |
| Gastrostomy tube feeding in infancy | 15.6% | 5/32 |
| Inguinal hernia | 9.4% | 3/32 |
| Umbilical hernia | 9.4% | 3/32 |
| Anal fistula | 3.1% | 1/32 |
| Anorectal anomaly | 3.1% | 1/32 |
| Ectopic anus | 3.1% | 1/32 |
| Gastroparesis | 3.1% | 1/32 |
| Urogenital | ||
| Abnormality of the urogenital system | 43.8% | 14/32 |
| Cryptorchidism | 31.3% | 10/32 |
| Renal duplication | 6.3% | 2/32 |
| Hydronephrosis | 3.1% | 1/32 |
| Renal cyst | 3.1% | 1/32 |
| Testicular microlithiasis | 3.1% | 1/32 |
| Urethral diverticulum | 3.1% | 1/32 |
| Urinary incontinence | 3.1% | 1/32 |
| Skeleton | ||
| Skeletal abnormalities | 65.6% | 21/32 |
| Clinodactyly of the 5th finger | 21.9% | 7/32 |
| Pes planus | 21.9% | 7/32 |
| Pectus excavatum | 18.8% | 6/32 |
| Scoliosis | 12.5% | 4/32 |
| Short neck | 9.4% | 3/32 |
| Camptodactyly of finger | 6.3% | 2/32 |
| Large hands | 6.3% | 2/32 |
| Plagiocephaly | 6.3% | 2/32 |
| Single transverse palmar crease | 6.3% | 2/32 |
| Tapered finger | 6.3% | 2/32 |
| Brachycephaly | 3.1% | 1/32 |
| Brachydactyly syndrome | 3.1% | 1/32 |
| Cervical ribs | 3.1% | 1/32 |
| Cranial asymmetry | 3.1% | 1/32 |
| Delayed skeletal maturation | 3.1% | 1/32 |
| Finger clinodactyly | 3.1% | 1/32 |
| Hyperlordosis | 3.1% | 1/32 |
| Inguinal hernia | 3.1% | 1/32 |
| Joint hypermobility | 3.1% | 1/32 |
| Long fingers | 3.1% | 1/32 |
| Long foot | 3.1% | 1/32 |
| Sagittal craniosynostosis | 3.1% | 1/32 |
| Short toe | 3.1% | 1/32 |
| Umbilical hernia | 3.1% | 1/32 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 38.7% | 12/31 |
| Single transverse palmar crease | 16.1% | 5/31 |
| Abnormal dermatoglyphics | 3.2% | 1/31 |
| Clubbing | 3.2% | 1/31 |
| Curly hair | 3.2% | 1/31 |
| Lichenification | 3.2% | 1/31 |
| Melanocytic nevus | 3.2% | 1/31 |
| Sparse hair | 3.2% | 1/31 |
| Urticaria | 3.2% | 1/31 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the immune system | 17.2% | 5/29 |
| IgA deficiency | 3.4% | 1/29 |
| Leukopenia | 3.4% | 1/29 |
| Neutropenia | 3.4% | 1/29 |
| Recurrent infections | 3.4% | 1/29 |
| Recurrent upper respiratory tract infections | 3.4% | 1/29 |