Table 1 Main clinical characteristics of the 15 patients with IJO
Sex | Familial bone history | Genetic or skin analysis | Clinical score | Age first referral (years) | Age first symptom (years) | Time between first symptom and diagnosis (years) | Centile-size at diagnosis | Main initial symptom | Back pains | Legs pains | Chest | Vertebral compression fracture | Other symptoms | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | M | 3 fractures mother, brother of pt2 | Negative | 2 | 15.4 | 6.0 | 9.4 | 90 | fracture | No | No | No | No | Increased urinary NTX |
2 | F | Osteoporosis mother, sister of pt1 | NP | 1 | 13.5 | 5.0 | 8.5 | 45 | back pain | Yes | No | No | No | Transient hyperPTH |
3 | M | No | Negative | 2 | 8.2 | 2.5 | 5.7 | 95 | fracture | No | No | No | No | No |
4 | M | Osteoporosis grand-mother | Negative | 2 | 14.3 | 14.0 | 0.3 | 85 | fracture | Yes | Yes | No | No | Increased urinary NTX |
5 | F | No | Negative | 1 | 5.9 | 5.5 | 0.4 | 50 | fracture | No | No | No | No | No |
6 | M | Osteoporosis grand-mother | NP | 1 | 13.3 | 10.5 | 2.8 | 75 | fracture | No | No | No | No | No |
7 | F | No | Negative | 1 | 7.8 | 7.6 | 0.2 | 90 | osteopenia | No | No | No | No | No |
8 | M | Rheumatoidarthritis mother | Negative | 2 | 12.9 | 8.0 | 4.9 | 80 | fracture | Yes | Yes | No | No | Skin hyperpigmentation, Low 25-vitD |
9 | M | Parathyroid adenoma father | Negative | 2 | 10.2 | 3.5 | 6.7 | 90 | fracture | No | No | No | No | No |
10 | M | Twin brother (pt 11) with fractures | Negative | 2 | 13.9 | 5.0 | 8.9 | 98 | fracture | No | No | No | No | No |
11 | M | Twin brother (pt 10) with fractures | Negative | 1 | 13.9 | 13.0 | 0.9 | 98 | fracture | No | No | No | No | No |
12 | M | Osteoporosis grand-mother | Negative | 2 | 5.5 | 1.5 | 4.0 | 15 | fracture | No | Yes | No | No | No |
13 | M | Scoliosis father | NP | 2 | 8.1 | 5.0 | 3.1 | 95 | fracture | Yes | No | Yes | Yes | No |
14 | M | No | NP | 2 | 9.5 | 9.0 | 0.5 | 15 | fracture | Yes | Yes | Yes | Yes | Osteomyelitis radius and avascular necrosis, Transient hypercalciuria |
15 | F | NA | NA | 2 | 10.0 | NA | NA | NA | fracture | NA | NA | NA | NA | NA |