Percentage | Cases | |
---|---|---|
Gender | ||
Male | 57.1% | 8/14 |
Female | 42.9% | 6/14 |
General | ||
Birth Length abnormalities | 47.1% | 8/17 |
< P3 : Birth length less than 3rd percentile | 47.1% | 8/17 |
Birth Weight abnormalities | 64.7% | 11/17 |
< P3 : Small for gestational age | 64.7% | 11/17 |
Birth Head circumference abnormalities | 29.4% | 5/17 |
< P3 : Congenital microcephaly | 29.4% | 5/17 |
Current Height abnormalities | 100.0% | 17/17 |
< P3 : Short stature | 100.0% | 17/17 |
Current Weight abnormalities | 94.1% | 16/17 |
< P3 : Decreased body weight | 88.2% | 15/17 |
> P98 : Increased body weight | 5.9% | 1/17 |
Current Head circumference abnormalities | 41.2% | 7/17 |
< P3 : Microcephaly | 41.2% | 7/17 |
Neurology | ||
Neurological abnormalities | 42.9% | 3/7 |
Spinal cord compression | 42.9% | 3/7 |
Brain abnormality | 66.7% | 6/9 |
Ventriculomegaly | 55.6% | 5/9 |
Syringomyelia | 11.1% | 1/9 |
Facial abnormalities | ||
Abnormality of the eye | 100.0% | 14/14 |
Proptosis | 92.9% | 13/14 |
Blue sclerae | 57.1% | 8/14 |
Abnormality of the nose | 64.3% | 9/14 |
Narrow nasal bridge | 57.1% | 8/14 |
Convex nasal ridge | 42.9% | 6/14 |
Abnormality of the mouth | 85.7% | 12/14 |
Micrognathia | 85.7% | 12/14 |
Visual and hearing impairments | ||
Abnormal hearing | 83.3% | 10/12 |
Hearing impairment | 33.3% | 4/12 |
Bilateral conductive hearing impairment | 25.0% | 3/12 |
Bilateral sensorineural hearing impairment | 16.7% | 2/12 |
Conductive hearing impairment | 8.3% | 1/12 |
Abnormal vision | 91.7% | 11/12 |
Cataract | 91.7% | 11/12 |
Abnormality of retinal pigmentation | 50.0% | 6/12 |
Skeleton | ||
Skeletal abnormalities | 100.0% | 14/14 |
Aplasia/Hypoplasia of the cervical spine | 92.9% | 13/14 |
Enlarged epiphyses | 92.9% | 13/14 |
Overtubulated long bones | 92.9% | 13/14 |
Short metacarpal | 92.9% | 13/14 |
Short metatarsal | 92.9% | 13/14 |
Short phalanx of finger | 92.9% | 13/14 |
Cone-shaped epiphyses of the phalanges of the hand | 85.7% | 12/14 |
Coxa valga | 85.7% | 12/14 |
Flared metaphysis | 85.7% | 12/14 |
Short distal phalanx of finger | 85.7% | 12/14 |
Wide anterior fontanel | 85.7% | 12/14 |
Irregular vertebral endplates | 78.6% | 11/14 |
Pseudoepiphyses of the metacarpals | 78.6% | 11/14 |
Dysplastic radii | 71.4% | 10/14 |
Talipes equinovarus | 71.4% | 10/14 |
Hypoplasia of proximal fibula | 64.3% | 9/14 |
Platybasia | 64.3% | 9/14 |
Ivory epiphyses of the phalanges of the hand | 57.1% | 8/14 |
Abnormality of the lumbar spine | 50.0% | 7/14 |
Platyspondyly | 42.9% | 6/14 |
Abnormality of the sternum | 35.7% | 5/14 |
Madelung deformity | 35.7% | 5/14 |
C1-C2 subluxation | 21.4% | 3/14 |
Premature osteoarthritis | 21.4% | 3/14 |
Cervical platyspondyly | 7.1% | 1/14 |
Endocrine / Immunological / Metabolic | ||
Abnormality of the immune system | 84.6% | 11/13 |
Neutropenia | 84.6% | 11/13 |