Table 1.
Clinical features and diagnosis of 22 included patients with OI
| Case number | Gender | Age at admission | Family history | Fractures | Osteoporosis | Skeletal deformity | Short stature | Blue/gray scleral hue | Cardiovascular | Diagnosis | Mut type only prediction | Add feature prediction |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | M | 4 m | – | Multiple | Y | Y | – | – | L/S | 1 | 1 | |
| 2 | F | 16y | Y | Multiple | – | – | Y | Blue sclerae | M/M | 0 | 0 | |
| 3 | M | 8 m | – | Prenatal, multiple intrauterine fractures | – | – | – | Blue sclerae | L/S | 0 | 0 | |
| 4 | M | 1y4m | – | 1 | Y | – | – | Blue sclerae | M/M | 0 | 0 | |
| 5 | M | 4y4m | – | 1 | Y | – | – | – | M/M | 1 | 0 | |
| 6 | F | 12y | Y | 1 | – | – | – | Blue | M/M | 0 | 0 | |
| 7 | M | 11 m | Y | 2 | Y | Y | – | – | M/M | NA | NA | |
| 8 | M | 10y | – | 2 | Y | Y | – | L/S | NA | NA | ||
| 9 | M | 2y6m | – | Multiple | Y | – | – | – | M/M | NA | NA | |
| 10 | M | 5y7m | Y | 1 | – | – | Y | Blue sclerae | M/M | 0 | 0 | |
| 11 | M | 18y | Y | Multiple | – | Y | Y | – | L/S | 1 | 1 | |
| 12 | M | 8y | – | Multiple | Y | – | – | Blue sclerae | M/M | 0 | 0 | |
| 13 | M | 6y10m | Y | Multiple | Y | – | Blue sclerae | M/M | 0 | 0 | ||
| 14 | M | 11y | – | Multiple | Y | – | – | – | M/M | NA | NA | |
| 15 | M | 11 m | – | 1 | – | Y | Y | – | PDA, PFO | L/S | 0 | 1 |
| 16 | F | 8y8m | Y | 3 | Y | – | Y | – | M/M | 1 | 0 | |
| 17 | M | 9y9m | – | 1 | Y | Y | – | – | L/S | 0 | 1 | |
| 18 | F | 7y6m | Y | 1 | Y | Y | Y | Blue sclerae | L/S | 0 | 1 | |
| 19 | M | 5 m | – | Multiple | Y | Y | – | – | L/S | 0 | 1 | |
| 20 | M | 8y | – | Multiple | Y | Y | – | – | L/S | 0 | 1 | |
| 21 | M | 4y | – | Multiple | Y | – | – | – | M/M | 1 | 1 | |
| 22 | F | 6y10m | – | Multiple | – | + | – | – | L/S | NA | NA |
M/M mild/moderate, L/S lethal/severe