| Gender |
|
|
| Male |
66.7% |
6/9 |
| Female |
33.3% |
3/9 |
| Neurology |
|
|
| Neurological abnormalities |
100.0% |
5/5 |
| Muscular hypotonia |
100.0% |
5/5 |
| Torticollis |
20.0% |
1/5 |
| Facial abnormalities |
|
|
| Abnormality of the eye |
42.9% |
3/7 |
| Blue sclerae |
28.6% |
2/7 |
| Deeply set eye |
28.6% |
2/7 |
| Epicanthus inversus |
28.6% |
2/7 |
| Abnormality of the nose |
25.0% |
1/4 |
| Convex nasal ridge |
25.0% |
1/4 |
| Abnormality of the mouth |
75.0% |
3/4 |
| Dentinogenesis imperfecta |
50.0% |
2/4 |
| Carious teeth |
25.0% |
1/4 |
| Increased number of teeth |
25.0% |
1/4 |
| Microdontia |
25.0% |
1/4 |
| Pointed chin |
25.0% |
1/4 |
| Heart |
|
|
| Abnormality of the heart |
28.6% |
2/7 |
| Endocarditis |
14.3% |
1/7 |
| Left ventricular septal hypertrophy |
14.3% |
1/7 |
| Mitral regurgitation |
14.3% |
1/7 |
| Tricuspid regurgitation |
14.3% |
1/7 |
| Pulmonary |
|
|
| Abnormality of the lungs |
50.0% |
1/2 |
| Restrictive lung disease |
50.0% |
1/2 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
100.0% |
1/1 |
| Congenital hepatic fibrosis |
100.0% |
1/1 |
| Hepatosplenomegaly |
100.0% |
1/1 |
| Portal hypertension |
100.0% |
1/1 |
| Skeleton |
|
|
| Skeletal abnormalities |
100.0% |
9/9 |
| Recurrent fractures |
88.9% |
8/9 |
| Bowing of the legs |
77.8% |
7/9 |
| Bowing of the arm |
66.7% |
6/9 |
| Joint hypermobility |
66.7% |
6/9 |
| Lower limb undergrowth |
66.7% |
6/9 |
| Scoliosis |
55.6% |
5/9 |
| Upper limb undergrowth |
55.6% |
5/9 |
| Barrel-shaped chest |
44.4% |
4/9 |
| Pectus excavatum |
33.3% |
3/9 |
| Bell-shaped thorax |
22.2% |
2/9 |
| Osteoporosis |
22.2% |
2/9 |
| Abnormality of the thorax |
11.1% |
1/9 |
| Coxa valga |
11.1% |
1/9 |
| Kyphoscoliosis |
11.1% |
1/9 |
| Platyspondyly |
11.1% |
1/9 |
| Reduced bone mineral density |
11.1% |
1/9 |
| Wormian bones |
11.1% |
1/9 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
50.0% |
2/4 |
| Sparse hair |
50.0% |
2/4 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the immune system |
100.0% |
1/1 |
| Osteomyelitis |
100.0% |
1/1 |
| Sepsis |
100.0% |
1/1 |
| Neoplasia |
|
|
| Neoplasia |
100.0% |
1/1 |
| Recurrent abscess formation |
100.0% |
1/1 |