Table I.
Ciliary ultrastructural defects and clinical demographics of patients diagnosed with primary ciliary dyskinesia. The number of patients with the same structural defect is shown with mean age at diagnosis (range) and clinical symptoms and signs (n [%])
| Ultrastructural defect | No. of patients (female) | Age (range) (y) | Chest (%) | Nasal (%) | Ear (%) | Situs inversus (%) |
|---|---|---|---|---|---|---|
| Inner and outer dynein arm defect | 20 (9) | 2.9 (0.1-10.0) | 20 (100.0) | 17 (85.0) | 9 (45.0) | 9 (45.0) |
| Outer dynein arm defect | 16 (6) | 4.5 (0.2–13.0) | 16 (100.0) | 15 (93.8) | 11 (68.8) | 9 (56.2) |
| Inner dynein arm defect | 8 (3) | 6.9 (0.1-11.0) | 7 (87.5) | 7 (87.5) | 6 (75.0) | 2 (25.0) |
| Radial spoke defect | 4 (2) | 3.6 (1.5-5.0) | 4 (100.0) | 4 (100.0) | 1 (25.0) | 3 (75.0) |
| Transposition defect | 8 (4) | 8.3 (0.4-14.0) | 8 (100.0) | 8 (100.0) | 3 (37.5) | 0 (0.0) |
| Total | 56 (24) | 4.7 (0.1-14) | 55 (98.2) | 51 (91.0) | 30 (54.5) | 23 (41.0) |