Table 1 Main clinical characteristics of study participants
Status | Mutation | Age range (y) | Age at diagnosis (y) | PALa | Renier’s index (%) | Number of affected bones | Details of involved bones |
|---|---|---|---|---|---|---|---|
Healthy | No | 60–69 | |||||
Healthy | No | 50–59 | |||||
Healthy | No | 70–79 | |||||
Healthy | No | 70–79 | |||||
Affected | CT for rs62620995 | 40–49 | 34 | 1.89 | 15.70 | 2 | Skull, face excluding the mandibula |
Affected | No | 70–79 | 41 | 10.42 | 21.35 | 7 | Sacrum, right and left pelvis, left scapula, both humeri, 3 consecutive lumbar vertebrae |
Affected | No | 80–89 | 48 | 5.16 | 5.00 | 1 | Right tibia |
Affected | CT for rs62620995 | 80–89 | 64 | 3.00 | 27.80 | 6 | Left humerus, D8, D12, right pelvis, and both femurs |
Affected | CT for rs62620995 | 60–69 | 57 | 1.24 | 2.50 | 1 | Left tibia |
Affected | CT for rs62620995 | 75–79 | 69 | 1.01 | 8.20 | 2 | Left proximal femur, left tibia |
Affected | No | 70–79 | 74 | 1.06 | 6.20 | 1 | 2/3 of left femur |
Affected | No | 50–59 | 50 | 1.25 | 4.50 | 1 | Left pelvis |