Table 2.
Ossifications vs Patient Characteristics
| Characteristic | Total No. of Patients | No. of Patients With SCOs | % of Patients With SCOs |
|---|---|---|---|
| PHP1A | 49 | 35 | 71.4 |
| Males | 19 | 16 | 84.2 |
| Females | 30 | 19 | 63.3 |
| Children | 31 | 21 | 67.7 |
| Adults | 18 | 14 | 77.8 |
| Nonsense | 12 | 12 | 100.0 |
| Frameshift | 18 | 16 | 88.9 |
| AA insertion | 1 | 1 | 100.0 |
| Missense | 18 | 6 | 33.3 |
| Brachydactyly | 38 | 25 | 65.8 |
| GHRH | |||
| Resistant | 29 | 20 | 69.0 |
| Not resistant | 15 | 12 | 80.0 |
| PPHP | 18 | 12 | 66.7 |
| Males | 3 | 3 | 100.0 |
| Females | 15 | 9 | 60.0 |
| Children | 2 | 1 | 50.0 |
| Adults | 16 | 11 | 68.8 |
| Nonsense | 8 | 7 | 87.5 |
| Frameshift | 4 | 4 | 100.0 |
| Missense | 6 | 1 | 16.7 |
| Brachydactyly | 17 | 11 | 64.7 |
| PHP1A + PPHP | 67 | 47 | 70.1 |
| Males | 22 | 19 | 86.4 |
| Females | 45 | 28 | 62.2 |
| Children | 33 | 22 | 66.7 |
| Adults | 34 | 25 | 73.5 |
| Nonsense | 20 | 19 | 95.0 |
| Frameshift | 22 | 20 | 90.9 |
| AA insertion | 1 | 1 | 100.0 |
| Missense | 24 | 7 | 29.2 |
| Brachydactyly | 55 | 36 | 65.5 |
Abbreviation: AA, amino acid.