BGN
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 100.0% | 8/8 |
| Female | 0% | 0/8 |
| Indifferent | 0% | 0/8 |
| Unknown | 0% | 0/8 |
| General | ||
| Birth Length abnormalities | 0% | 0/8 |
| Birth Weight abnormalities | 0% | 0/8 |
| Birth Head circumference abnormalities | 0% | 0/8 |
| Current Height abnormalities | 50.0% | 4/8 |
| > P98 : Tall stature | 12.5% | 1/8 |
| < P3 : Short stature | 37.5% | 3/8 |
| Current Weight abnormalities | 12.5% | 1/8 |
| < P3 : Decreased body weight | 12.5% | 1/8 |
| Current Head circumference abnormalities | 0% | 0/7 |
| Neurology | ||
| Neurological abnormalities | 40.0% | 2/5 |
| Small foramen magnum | 20.0% | 1/5 |
| Specific learning disability | 20.0% | 1/5 |
| Spinal cord compression | 20.0% | 1/5 |
| Brain abnormality | 100.0% | 3/3 |
| Ventriculomegaly | 100.0% | 3/3 |
| Facial abnormalities | ||
| Abnormality of the eye | 83.3% | 5/6 |
| Hypertelorism | 83.3% | 5/6 |
| Downslanted palpebral fissures | 66.7% | 4/6 |
| Proptosis | 50.0% | 3/6 |
| Abnormality of the nose | 100.0% | 1/1 |
| Wide nasal bridge | 100.0% | 1/1 |
| Abnormality of the mouth | 100.0% | 4/4 |
| High palate | 50.0% | 2/4 |
| Bifid uvula | 25.0% | 1/4 |
| Broad uvula | 25.0% | 1/4 |
| Delayed eruption of teeth | 25.0% | 1/4 |
| Gingival overgrowth | 25.0% | 1/4 |
| Heart | ||
| Abnormality of the heart | 100.0% | 8/8 |
| Aortic root dilatation | 100.0% | 8/8 |
| Aortic dissection | 25.0% | 2/8 |
| Dilatation of the ascending aorta | 25.0% | 2/8 |
| Arterial tortuosity | 12.5% | 1/8 |
| Atria septal defect | 12.5% | 1/8 |
| Ductus arteriosus aneurysm | 12.5% | 1/8 |
| Mitral valve prolapse | 12.5% | 1/8 |
| Patent ductus arteriosus | 12.5% | 1/8 |
| Pulmonary artery aneurysm | 12.5% | 1/8 |
| Skeleton | ||
| Skeletal abnormalities | 87.5% | 7/8 |
| Joint hypermobility | 87.5% | 7/8 |
| Pes planus | 50.0% | 4/8 |
| Arachnodactyly | 37.5% | 3/8 |
| Short stature | 37.5% | 3/8 |
| Brachydactyly syndrome | 25.0% | 2/8 |
| Broad thumb | 25.0% | 2/8 |
| Elbow flexion contracture | 25.0% | 2/8 |
| Flexion contracture of finger | 25.0% | 2/8 |
| Hip dislocation | 25.0% | 2/8 |
| Overlapping toe | 25.0% | 2/8 |
| Abnormality of the sternum | 12.5% | 1/8 |
| Broad hallux | 12.5% | 1/8 |
| Broad fingertip | 12.5% | 1/8 |
| C1-C2 subluxation | 12.5% | 1/8 |
| Fibular deviation of toes | 12.5% | 1/8 |
| Pectus excavatum | 12.5% | 1/8 |
| Platyspondyly | 12.5% | 1/8 |
| Skull asymmetry | 12.5% | 1/8 |
| Tall stature | 12.5% | 1/8 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 83.3% | 5/6 |
| Hypertrichosis | 33.3% | 2/6 |
| Striae distensae | 33.3% | 2/6 |
| Soft skin | 16.7% | 1/6 |
| Umbilical hernia | 16.7% | 1/6 |