BMP2
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 46.2% | 6/13 |
| Female | 53.8% | 7/13 |
| 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 ears | 7.7% | 1/13 |
| Low-set, posteriorly rotated ears | 53.8% | 7/13 |
| Abnormality of the eye | 23.1% | 3/13 |
| Downslanted palpebral fissures | 23.1% | 3/13 |
| Abnormality of the nose | 100.0% | 13/13 |
| Short nose | 100.0% | 13/13 |
| Anteverted nares | 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 |
| Everted lower lip vermilion | 25.0% | 3/12 |
| Dental crowding | 50.0% | 6/12 |
| High palate | 50.0% | 6/12 |
| Anterior open bite | 41.7% | 5/12 |
| 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 |
| Pulmonic stenosis | 10.0% | 1/10 |
| Ebstein's anomaly of the tricuspid valve | 10.0% | 1/10 |
| Wolff-Parkinson-White syndrome | 10.0% | 1/10 |
| Perimembranous ventricular septal defect | 10.0% | 1/10 |
| Paroxysmal supraventricular tachycardia | 10.0% | 1/10 |
| Palpitations | 10.0% | 1/10 |
| Skeleton | ||
| Skeletal abnormalities | 92.3% | 12/13 |
| 11 pairs of ribs | 61.5% | 8/13 |
| Mild short stature | 7.7% | 1/13 |
| Hypoplastic ilia | 7.7% | 1/13 |
| Prominent sternum | 15.4% | 2/13 |
| Clinodactyly of the 5th finger | 30.8% | 4/13 |
| Short proximal phalanx of the 5th finger | 23.1% | 3/13 |
| Delayed skeletal maturation | 7.7% | 1/13 |
| Pseudoepiphyses of the metacarpals | 7.7% | 1/13 |
| Spondylolisthesis at L5-S1 | 23.1% | 3/13 |
| Thoracic scoliosis | 7.7% | 1/13 |
| Hypoplastic scapulae | 7.7% | 1/13 |
| Sandal gap | 61.5% | 8/13 |
| Limited pronation/supination of forearm | 15.4% | 2/13 |
| Small epiphyses of the distal phalanges of the hand | 7.7% | 1/13 |
| Aplasia/Hypoplasia of the distal phalanges of the hand | 7.7% | 1/13 |
| Osteopenia | 7.7% | 1/13 |
| Vertebral clefting | 15.4% | 2/13 |
| Spina bifida occulta | 7.7% | 1/13 |
| Fusion of midphalangeal joints | 7.7% | 1/13 |
| Pectus excavatum | 15.4% | 2/13 |
| Single interphalangeal crease of fifth finger | 7.7% | 1/13 |
| Short 5th finger | 7.7% | 1/13 |
| Cortical thickening of long bone diaphyses | 7.7% | 1/13 |
| Short toe | 7.7% | 1/13 |
| Short metacarpal | 7.7% | 1/13 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 25.0% | 3/12 |
| Toenail dysplasia | 25.0% | 3/12 |
| Prominent fingertip pads | 8.3% | 1/12 |
| Deep longitudinal plantar crease | 8.3% | 1/12 |