Table 1.
Demographics | |
---|---|
Total patients, n | 44 |
Genetic diagnosis | 8 |
Diagnosis on bone biopsy | 1 |
Sex, n (%) | |
Male | 21 (48) |
Female | 23 (52) |
Total patient‐years in study, n | 520 |
Median age of cohort, years (IQR) | 11.3 (6.2–17) |
Age category at time of study, n (%) | |
0 to <3 years | 3 (6.8) |
3 to <6 years | 7 (16) |
6 to <9 years | 7 (16) |
9 to <12 years | 6 (13.6) |
12 to <15 years | 6 (13.6) |
15 to 18 years | 15 (34) |
Family history of OI, n (%) | |
Positive | 35 (79.5) |
Negative | 8 (18.2) |
Unknown | 1 (2.2) |
Extra skeletal clinical characteristics | |
Yes, No, Unknown (n) | |
Wormian bones | 9, 7, 28 |
Hypermobile joints | 22, 6, 16 |
Dentinogenesis imperfecta | 6, 24, 14 |
Gray‐blue sclerae | 36, 2, 6 |
Hearing deficit | 1, 25, 18 |
Fractures | |
Median age at first fracture, years (IQR) | 1.4 (0.2–2.6) |
Median age for all fractures, years (IQR) | 5.0 (2.5–9.0) |
Median fractures per patient (IQR) | 3 (2–6) |
Total fractured bones, n | 197 |
Lower limb fractures, n (%) | 98 (49.7) |
Upper limb fractures, n (%) | 80 (40.6) |
Axial fractures, n (%) | 19 (9.7) |
Fracture rate (fractures/1000 patient‐years, 95% CI) | 379 (310–440) |
Patients with one or fewer fractures, n (%) | 10 (22.7) |
Patients with more than one fracture, n (%) | 34 (77.3) |
Patient‐years with ≥1 fracture, n (%) | 130 (25) |
Patient‐years with ≥2 fractures, n (%) | 50 (38.4) |
Patent years with same site recurrent fractures, n (%) | 26 (20) |
Bisphosphonates | |
Patients received bisphosphonates, n (%) | 21 (47.8) |
Median age of starting bisphosphonates, years (IQR) | 6.4 (5.0–7.9) |
Years when receiving bisphosphonate, n (%) | |
No bisphosphonate | 244 (46.9) |
Before bisphosphonate | 131 (25.2) |
During bisphosphonate | 114 (21.9) |
After bisphosphonate | 31 (6.0) |
Fracture rate (per/1000 patient‐years, 95% CI) | |
No bisphosphonates | 230 (180–280) |
Before bisphosphonates | 340 (250–420) |
During bisphosphonates | 210 (130–290) |
After bisphosphonates | 190 (50–340) |
Note: Results are number and percentage of total fractures or patient study years.