SKI
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 49.1% | 26/53 |
| Female | 50.9% | 27/53 |
| Indifferent | 0% | 0/53 |
| Unknown | 0% | 0/53 |
| General | ||
| Birth Length abnormalities | 0% | 0/87 |
| Birth Weight abnormalities | 0% | 0/87 |
| Birth Head circumference abnormalities | 0% | 0/87 |
| Current Height abnormalities | 0% | 0/87 |
| Current Weight abnormalities | 2.3% | 2/87 |
| < P3 : Decreased body weight | 2.3% | 2/87 |
| Current Head circumference abnormalities | 0% | 0/87 |
| Neurology | ||
| Neurological abnormalities | 62.1% | 18/29 |
| Muscular hypotonia | 55.2% | 16/29 |
| Dural ectasia | 13.8% | 4/29 |
| Headache | 3.4% | 1/29 |
| Hyporeflexia | 3.4% | 1/29 |
| Myelomeningocele | 3.4% | 1/29 |
| Spina bifida occulta | 3.4% | 1/29 |
| Spina bifida occulta at S1 | 3.4% | 1/29 |
| Syringomyelia | 3.4% | 1/29 |
| Tethered cord | 3.4% | 1/29 |
| Behavioral problems | 20.0% | 3/15 |
| Specific learning disability | 20.0% | 3/15 |
| Brain abnormality | 100.0% | 2/2 |
| Aplasia/Hypoplasia of the corpus callosum | 50.0% | 1/2 |
| Choroid plexus cyst | 50.0% | 1/2 |
| Dilation of lateral ventricles | 50.0% | 1/2 |
| Dilated third ventricle | 50.0% | 1/2 |
| Increased intracranial pressure | 50.0% | 1/2 |
| Facial abnormalities | ||
| Abnormality of the ear | 46.0% | 23/50 |
| Low-set ears | 26.0% | 13/50 |
| Low-set, posteriorly rotated ears | 18.0% | 9/50 |
| Long hairs growing from helix of pinna | 2.0% | 1/50 |
| Long ear | 2.0% | 1/50 |
| Overfolded helix | 2.0% | 1/50 |
| Abnormality of the eye | 96.2% | 51/53 |
| Hypertelorism | 88.7% | 47/53 |
| Downslanted palpebral fissures | 86.8% | 46/53 |
| Proptosis | 67.9% | 36/53 |
| Deeply set eye | 5.7% | 3/53 |
| Blepharophimosis | 3.8% | 2/53 |
| Shallow orbits | 3.8% | 2/53 |
| Short palpebral fissure | 1.9% | 1/53 |
| Abnormality of the nose | 3.8% | 2/53 |
| Depressed nasal bridge | 3.8% | 2/53 |
| Abnormality of the mouth | 90.6% | 48/53 |
| High, narrow palate | 52.8% | 28/53 |
| Micrognathia | 37.7% | 20/53 |
| Abnormality of the mandible | 26.4% | 14/53 |
| Microretrognathia | 9.4% | 5/53 |
| High palate | 7.5% | 4/53 |
| Cleft palate | 5.7% | 3/53 |
| Retrognathia | 3.8% | 2/53 |
| Thin upper lip vermilion | 3.8% | 2/53 |
| Abnormality of the uvula | 1.9% | 1/53 |
| Abnormality of the alveolar ridges | 1.9% | 1/53 |
| Bifid uvula | 1.9% | 1/53 |
| Broad uvula | 1.9% | 1/53 |
| Dental malocclusion | 1.9% | 1/53 |
| Malar flattening | 1.9% | 1/53 |
| Mandibular prognathia | 1.9% | 1/53 |
| Tented upper lip vermilion | 1.9% | 1/53 |
| Visual and hearing impairments | ||
| Abnormal vision | 19.2% | 10/52 |
| Myopia | 17.3% | 9/52 |
| Exotropia | 3.8% | 2/52 |
| Amblyopia | 1.9% | 1/52 |
| Cataract | 1.9% | 1/52 |
| Microcornea | 1.9% | 1/52 |
| Retinal detachment | 1.9% | 1/52 |
| Heart | ||
| Abnormality of the heart | 52.9% | 27/51 |
| Mitral valve prolapse | 31.4% | 16/51 |
| Aortic root dilatation | 27.5% | 14/51 |
| Ascending aortic dilation | 11.8% | 6/51 |
| Mitral regurgitation | 7.8% | 4/51 |
| Celiac artery aneurysm | 3.9% | 2/51 |
| Abnormality of the mitral valve | 2.0% | 1/51 |
| Arterial tortuosity | 2.0% | 1/51 |
| Myxomatous mitral valve degeneration | 2.0% | 1/51 |
| Premature calcification of mitral annulus | 2.0% | 1/51 |
| Tortuous cerebral arteries | 2.0% | 1/51 |
| Tricuspid regurgitation | 2.0% | 1/51 |
| Tricuspid valve prolapse | 2.0% | 1/51 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 53/53 |
| Arachnodactyly | 98.1% | 52/53 |
| Flexion contracture | 64.2% | 34/53 |
| Abnormality of the sternum | 58.5% | 31/53 |
| Scoliosis | 49.1% | 26/53 |
| Joint hypermobility | 45.3% | 24/53 |
| Camptodactyly | 37.7% | 20/53 |
| Pes planus | 20.8% | 11/53 |
| Disproportionate tall stature | 18.9% | 10/53 |
| Deformed tarsal bones | 15.1% | 8/53 |
| Pectus carinatum | 15.1% | 8/53 |
| C1-C2 vertebral abnormality | 9.4% | 5/53 |
| Abnormality of the vertebral column | 7.5% | 4/53 |
| Protrusio acetabuli | 7.5% | 4/53 |
| Camptodactyly of toe | 5.7% | 3/53 |
| Hallux valgus | 5.7% | 3/53 |
| Pectus excavatum | 5.7% | 3/53 |
| Bilateral talipes equinovarus | 3.8% | 2/53 |
| Long toe | 3.8% | 2/53 |
| Syndactyly | 3.8% | 2/53 |
| Thoracolumbar scoliosis | 3.8% | 2/53 |
| Basilar invagination | 1.9% | 1/53 |
| Camptodactyly of finger | 1.9% | 1/53 |
| Coxa valga | 1.9% | 1/53 |
| Delayed epiphyseal ossification | 1.9% | 1/53 |
| Flexion contracture of finger | 1.9% | 1/53 |
| Hallux varus | 1.9% | 1/53 |
| Hypermobility of interphalangeal joints | 1.9% | 1/53 |
| Hyperextensibility at wrists | 1.9% | 1/53 |
| Increased skull ossification | 1.9% | 1/53 |
| Joint laxity | 1.9% | 1/53 |
| Knee flexion contracture | 1.9% | 1/53 |
| Kyphoscoliosis | 1.9% | 1/53 |
| Limited elbow extension | 1.9% | 1/53 |
| Long hallux | 1.9% | 1/53 |
| Long foot | 1.9% | 1/53 |
| Metatarsus adductus | 1.9% | 1/53 |
| Narrow iliac wings | 1.9% | 1/53 |
| Narrow foot | 1.9% | 1/53 |
| Patellar subluxation | 1.9% | 1/53 |
| Pes cavus | 1.9% | 1/53 |
| Radioulnar synostosis | 1.9% | 1/53 |
| Talipes | 1.9% | 1/53 |
| Talipes equinovarus | 1.9% | 1/53 |
| Thickened calvaria | 1.9% | 1/53 |
| Wide anterior fontanel | 1.9% | 1/53 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 17.0% | 9/53 |
| Reduced subcutaneous adipose tissue | 13.2% | 7/53 |
| Blue nevus | 1.9% | 1/53 |
| Cutis laxa | 1.9% | 1/53 |
| Cutis marmorata | 1.9% | 1/53 |
| Decreased palmar creases | 1.9% | 1/53 |