Percentage | Cases | |
---|---|---|
Gender | ||
Male | 46.2% | 6/13 |
Female | 53.8% | 7/13 |
General | ||
Birth Length abnormalities | 8.3% | 1/12 |
< P3 : Birth length less than 3rd percentile | 8.3% | 1/12 |
Birth Weight abnormalities | 8.3% | 1/12 |
< P3 : Small for gestational age | 8.3% | 1/12 |
Birth Head circumference abnormalities | 0% | 0/12 |
Current Height abnormalities | 61.5% | 8/13 |
< P3 : Short stature | 61.5% | 8/13 |
Current Weight abnormalities | 38.5% | 5/13 |
< P3 : Decreased body weight | 30.8% | 4/13 |
> P98 : Increased body weight | 7.7% | 1/13 |
Current Head circumference abnormalities | 30.8% | 4/13 |
< P3 : Microcephaly | 30.8% | 4/13 |
Neurology | ||
Neurological abnormalities | 25.0% | 3/12 |
Generalized hypotonia | 25.0% | 3/12 |
Behavioral problems | 9.1% | 1/11 |
Anxiety | 9.1% | 1/11 |
Shyness | 9.1% | 1/11 |
Facial abnormalities | ||
Abnormality of the ear | 61.5% | 8/13 |
Low-set, posteriorly rotated ears | 53.8% | 7/13 |
Low-set ears | 7.7% | 1/13 |
Abnormality of the eye | 23.1% | 3/13 |
Downslanted palpebral fissures | 23.1% | 3/13 |
Abnormality of the nose | 100.0% | 13/13 |
Anteverted nares | 100.0% | 13/13 |
Short nose | 100.0% | 13/13 |
Long philtrum | 92.3% | 12/13 |
Abnormality of the mouth | 91.7% | 11/12 |
Thin upper lip vermilion | 91.7% | 11/12 |
Dental crowding | 50.0% | 6/12 |
High palate | 50.0% | 6/12 |
Anterior open bite | 41.7% | 5/12 |
Everted lower lip vermilion | 25.0% | 3/12 |
Bifid uvula | 8.3% | 1/12 |
Visual and hearing impairments | ||
Abnormal hearing | 33.3% | 4/12 |
Conductive hearing impairment | 33.3% | 4/12 |
Cholesteatoma | 8.3% | 1/12 |
Heart | ||
Abnormality of the heart | 70.0% | 7/10 |
Transposition of the great arteries | 20.0% | 2/10 |
Ebstein's anomaly of the tricuspid valve | 10.0% | 1/10 |
Palpitations | 10.0% | 1/10 |
Paroxysmal supraventricular tachycardia | 10.0% | 1/10 |
Perimembranous ventricular septal defect | 10.0% | 1/10 |
Pulmonic stenosis | 10.0% | 1/10 |
Wolff-Parkinson-White syndrome | 10.0% | 1/10 |
Skeleton | ||
Skeletal abnormalities | 92.3% | 12/13 |
Sandal gap | 61.5% | 8/13 |
11 pairs of ribs | 61.5% | 8/13 |
Clinodactyly of the 5th finger | 30.8% | 4/13 |
Short proximal phalanx of the 5th finger | 23.1% | 3/13 |
Spondylolisthesis at L5-S1 | 23.1% | 3/13 |
Limited pronation/supination of forearm | 15.4% | 2/13 |
Pectus excavatum | 15.4% | 2/13 |
Prominent sternum | 15.4% | 2/13 |
Vertebral clefting | 15.4% | 2/13 |
Aplasia/Hypoplasia of the distal phalanges of the hand | 7.7% | 1/13 |
Cortical thickening of long bone diaphyses | 7.7% | 1/13 |
Delayed skeletal maturation | 7.7% | 1/13 |
Fusion of midphalangeal joints | 7.7% | 1/13 |
Hypoplastic scapulae | 7.7% | 1/13 |
Hypoplastic ilia | 7.7% | 1/13 |
Mild short stature | 7.7% | 1/13 |
Osteopenia | 7.7% | 1/13 |
Pseudoepiphyses of the metacarpals | 7.7% | 1/13 |
Short 5th finger | 7.7% | 1/13 |
Short metacarpal | 7.7% | 1/13 |
Short toe | 7.7% | 1/13 |
Single interphalangeal crease of fifth finger | 7.7% | 1/13 |
Small epiphyses of the distal phalanges of the hand | 7.7% | 1/13 |
Spina bifida occulta | 7.7% | 1/13 |
Thoracic scoliosis | 7.7% | 1/13 |
Skin / Hair / Nails | ||
Abnormality of the skin/hair/nails | 25.0% | 3/12 |
Toenail dysplasia | 25.0% | 3/12 |
Deep longitudinal plantar crease | 8.3% | 1/12 |
Prominent fingertip pads | 8.3% | 1/12 |