PCGF2
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 53.3% | 8/15 |
| Female | 46.7% | 7/15 |
| Indifferent | 0% | 0/15 |
| Unknown | 0% | 0/15 |
| General | ||
| Birth Length abnormalities | 13.3% | 2/15 |
| < P3 : Birth length less than 3rd percentile | 13.3% | 2/15 |
| Birth Weight abnormalities | 46.7% | 7/15 |
| < P3 : Small for gestational age | 46.7% | 7/15 |
| Birth Head circumference abnormalities | 0% | 0/15 |
| Current Height abnormalities | 26.7% | 4/15 |
| < P3 : Short stature | 26.7% | 4/15 |
| Current Weight abnormalities | 13.3% | 2/15 |
| < P3 : Decreased body weight | 13.3% | 2/15 |
| Current Head circumference abnormalities | 26.7% | 4/15 |
| < P3 : Microcephaly | 26.7% | 4/15 |
| Neurology | ||
| Neurological abnormalities | 93.3% | 14/15 |
| Muscular hypotonia | 53.3% | 8/15 |
| Hypertonia | 26.7% | 4/15 |
| Obstructive sleep apnea | 20.0% | 3/15 |
| Poor coordination | 20.0% | 3/15 |
| Seizures | 20.0% | 3/15 |
| Sleep disturbance | 13.3% | 2/15 |
| Spastic diplegia | 13.3% | 2/15 |
| Torticollis | 13.3% | 2/15 |
| Choreoathetosis | 6.7% | 1/15 |
| Dysarthria | 6.7% | 1/15 |
| EEG abnormality | 6.7% | 1/15 |
| Facial hypotonia | 6.7% | 1/15 |
| Gait imbalance | 6.7% | 1/15 |
| Gait disturbance | 6.7% | 1/15 |
| Myopathic facies | 6.7% | 1/15 |
| Behavioral problems | 71.4% | 10/14 |
| Absent speech | 28.6% | 4/14 |
| Anxiety | 14.3% | 2/14 |
| Attention deficit hyperactivity disorder | 14.3% | 2/14 |
| Poor eye contact | 14.3% | 2/14 |
| Autism | 7.1% | 1/14 |
| Autistic behavior | 7.1% | 1/14 |
| Clumsiness | 7.1% | 1/14 |
| Impaired social interactions | 7.1% | 1/14 |
| Impulsivity | 7.1% | 1/14 |
| Self-injurious behavior | 7.1% | 1/14 |
| Short attention span | 7.1% | 1/14 |
| Shyness | 7.1% | 1/14 |
| Sleep disturbance | 7.1% | 1/14 |
| Stereotypic behavior | 7.1% | 1/14 |
| Brain abnormality | 80.0% | 12/15 |
| Abnormality of the cerebral white matter | 66.7% | 10/15 |
| Polymicrogyria | 26.7% | 4/15 |
| Ventriculomegaly | 20.0% | 3/15 |
| Abnormality of the third ventricle | 6.7% | 1/15 |
| Abnormal cortical gyration | 6.7% | 1/15 |
| Abnormality of the fourth ventricle | 6.7% | 1/15 |
| Aplasia/Hypoplasia of the corpus callosum | 6.7% | 1/15 |
| Cavum septum pellucidum | 6.7% | 1/15 |
| Cerebellar vermis hypoplasia | 6.7% | 1/15 |
| Perisylvian polymicrogyria | 6.7% | 1/15 |
| Perivascular spaces | 6.7% | 1/15 |
| Facial abnormalities | ||
| Abnormality of the ear | 100.0% | 15/15 |
| Satyr ear | 80.0% | 12/15 |
| Low-set ears | 66.7% | 10/15 |
| Aplasia/Hypoplasia of the external ear | 46.7% | 7/15 |
| Small earlobe | 13.3% | 2/15 |
| Angulated antihelix | 6.7% | 1/15 |
| Cleft helix | 6.7% | 1/15 |
| Crumpled ear | 6.7% | 1/15 |
| Low-set, posteriorly rotated ears | 6.7% | 1/15 |
| Protruding ear | 6.7% | 1/15 |
| Small palpebral fissure | 6.7% | 1/15 |
| Stenosis of the external auditory canal | 6.7% | 1/15 |
| Underdeveloped antitragus | 6.7% | 1/15 |
| Abnormality of the eye | 100.0% | 14/14 |
| Periorbital fullness | 85.7% | 12/14 |
| Small palpebral fissure | 78.6% | 11/14 |
| Short palpebral fissure | 21.4% | 3/14 |
| Downslanted palpebral fissures | 14.3% | 2/14 |
| Abnormality of the eyelid | 7.1% | 1/14 |
| Blepharophimosis | 7.1% | 1/14 |
| Epicanthus | 7.1% | 1/14 |
| Hypertelorism | 7.1% | 1/14 |
| Telecanthus | 7.1% | 1/14 |
| Upslanted palpebral fissure | 7.1% | 1/14 |
| Abnormality of the nose | 80.0% | 12/15 |
| Prominent nasal tip | 66.7% | 10/15 |
| Anteverted nares | 13.3% | 2/15 |
| Depressed nasal bridge | 6.7% | 1/15 |
| Abnormality of the mouth | 86.7% | 13/15 |
| Narrow mouth | 53.3% | 8/15 |
| Mandibular prognathia | 46.7% | 7/15 |
| High palate | 40.0% | 6/15 |
| Thin upper lip vermilion | 33.3% | 5/15 |
| Dental malocclusion | 26.7% | 4/15 |
| Downturned corners of mouth | 20.0% | 3/15 |
| Dental crowding | 13.3% | 2/15 |
| Microdontia | 13.3% | 2/15 |
| Bifid uvula | 6.7% | 1/15 |
| Misalignment of teeth | 6.7% | 1/15 |
| Open mouth | 6.7% | 1/15 |
| Osteolysis | 6.7% | 1/15 |
| Widely spaced teeth | 6.7% | 1/15 |
| Visual and hearing impairments | ||
| Abnormal hearing | 80.0% | 8/10 |
| Conductive hearing impairment | 60.0% | 6/10 |
| Hearing impairment | 10.0% | 1/10 |
| Mild conductive hearing impairment | 10.0% | 1/10 |
| Sensorineural hearing impairment | 10.0% | 1/10 |
| Abnormal vision | 35.7% | 5/14 |
| Astigmatism | 14.3% | 2/14 |
| Exotropia | 14.3% | 2/14 |
| Anisometropia | 7.1% | 1/14 |
| Hypermetropia | 7.1% | 1/14 |
| Photophobia | 7.1% | 1/14 |
| Strabismus | 7.1% | 1/14 |
| Heart | ||
| Abnormality of the heart | 85.7% | 12/14 |
| Patent ductus arteriosus | 35.7% | 5/14 |
| Abnormality of the atrial septum | 21.4% | 3/14 |
| Aortic dilatation | 14.3% | 2/14 |
| Aortic root dilatation | 14.3% | 2/14 |
| Abnormality of the left ventricle | 7.1% | 1/14 |
| Aortic regurgitation | 7.1% | 1/14 |
| Ascending aortic dilation | 7.1% | 1/14 |
| Atria septal defect | 7.1% | 1/14 |
| Dilatation of the ascending aorta | 7.1% | 1/14 |
| Mitral regurgitation | 7.1% | 1/14 |
| Mitral valve prolapse | 7.1% | 1/14 |
| Pulmonary insufficiency | 7.1% | 1/14 |
| Secundum atrial septal defect | 7.1% | 1/14 |
| Supraventricular tachycardia | 7.1% | 1/14 |
| Syncope | 7.1% | 1/14 |
| Tricuspid valve prolapse | 7.1% | 1/14 |
| Tricuspid regurgitation | 7.1% | 1/14 |
| Pulmonary | ||
| Abnormality of the lungs | 14.3% | 2/14 |
| Congenital diaphragmatic hernia | 14.3% | 2/14 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 85.7% | 12/14 |
| Constipation | 57.1% | 8/14 |
| Gastroesophageal reflux | 50.0% | 7/14 |
| Bowel incontinence | 14.3% | 2/14 |
| Allergy | 7.1% | 1/14 |
| Chronic constipation | 7.1% | 1/14 |
| Drooling | 7.1% | 1/14 |
| Feeding difficulties in infancy | 7.1% | 1/14 |
| Urinary incontinence | 7.1% | 1/14 |
| Urogenital | ||
| Abnormality of the urogenital system | 28.6% | 4/14 |
| Cryptorchidism | 21.4% | 3/14 |
| Duplicated collecting system | 7.1% | 1/14 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 14/14 |
| Thoracic kyphosis | 21.4% | 3/14 |
| Arachnodactyly | 14.3% | 2/14 |
| Long thorax | 14.3% | 2/14 |
| Overlapping toe | 14.3% | 2/14 |
| Pectus excavatum | 14.3% | 2/14 |
| Vertebral hypoplasia | 14.3% | 2/14 |
| Abnormality of the hallux | 7.1% | 1/14 |
| Adducted thumb | 7.1% | 1/14 |
| Calcaneovalgus deformity | 7.1% | 1/14 |
| Camptodactyly of 2nd-5th fingers | 7.1% | 1/14 |
| Contractures involving the joints of the feet | 7.1% | 1/14 |
| Coxa valga | 7.1% | 1/14 |
| Delayed epiphyseal ossification | 7.1% | 1/14 |
| Delayed skeletal maturation | 7.1% | 1/14 |
| Flexion contracture of the 4th toe | 7.1% | 1/14 |
| Flexion contracture of 3rd toe | 7.1% | 1/14 |
| Hyperlordosis | 7.1% | 1/14 |
| Increased vertebral height | 7.1% | 1/14 |
| Kyphoscoliosis | 7.1% | 1/14 |
| Long toe | 7.1% | 1/14 |
| Lumbar hyperlordosis | 7.1% | 1/14 |
| Marked delay in bone age | 7.1% | 1/14 |
| Metatarsus adductus | 7.1% | 1/14 |
| Narrow palm | 7.1% | 1/14 |
| Narrow chest | 7.1% | 1/14 |
| Pectus carinatum | 7.1% | 1/14 |
| Pes cavus | 7.1% | 1/14 |
| Pes planus | 7.1% | 1/14 |
| Plantar flexion contractures | 7.1% | 1/14 |
| Prominent proximal interphalangeal joints | 7.1% | 1/14 |
| Pseudoepiphyses of the metacarpals | 7.1% | 1/14 |
| Sacral segmentation defect | 7.1% | 1/14 |
| Scoliosis | 7.1% | 1/14 |
| Short foot | 7.1% | 1/14 |
| Single transverse palmar crease | 7.1% | 1/14 |
| Slender long bone | 7.1% | 1/14 |
| Small hand | 7.1% | 1/14 |
| Tapering pointed ends of distal finger phalanges | 7.1% | 1/14 |
| Tapered finger | 7.1% | 1/14 |
| Thoracolumbar kyphosis | 7.1% | 1/14 |
| Thoracic scoliosis | 7.1% | 1/14 |
| Toe clinodactyly | 7.1% | 1/14 |
| Valgus foot deformity | 7.1% | 1/14 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 13/13 |
| Sparse scalp hair | 100.0% | 13/13 |
| Hemangioma | 15.4% | 2/13 |
| Long eyelashes | 15.4% | 2/13 |
| Melanocytic nevus | 15.4% | 2/13 |
| Dystrophic toenail | 7.7% | 1/13 |
| Facial hemangioma | 7.7% | 1/13 |
| Lumbar hypertrichosis | 7.7% | 1/13 |
| Medial flaring of the eyebrow | 7.7% | 1/13 |
| Redundant neck skin | 7.7% | 1/13 |
| Synophrys | 7.7% | 1/13 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the metabolic system | 7.1% | 1/14 |
| Dehydration | 7.1% | 1/14 |
| Hypoglycemia | 7.1% | 1/14 |
| Metabolic acidosis | 7.1% | 1/14 |
| Abnormality of the immune system | 35.7% | 5/14 |
| Recurrent respiratory infections | 28.6% | 4/14 |
| Otitis media | 7.1% | 1/14 |
| Recurrent otitis media | 7.1% | 1/14 |