Table 2.
Radiographic features and bone mineral density of subjects with the CCN2 variant
Subject, Age (year)/ Sexa | Radiographic features | Bone mineral densityb | |||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Spine deformity | Abnormal metaphyses | Irregular epiphyses | OA like changes | Other | L1-4/ (g/cm2) | Z-scores/ T-scores | Neck/ (g/cm2) | Z-scores/ T-scores | Total/ (g/cm2) | Z-scores/ T-scores | |
II-2, 70.0/F | platyspondyly | + | N/A | + | SFN | N/A | N/A | N/A | N/A | N/A | N/A |
II-7, 56.9/M | platyspondyly | + | N/A | + | SFN | 0.734 | −2.4/−2.9 | 0.585 | −2.2/−3.0 | 0.615 | −2.6/−2.9 |
II-10, 53.7/F | platyspondyly | + | N/A | + | SFN | 0.767 | −1.2/−2.9 | 0.689 | −0.6/−2.0 | 0.691 | −1.1/−2.2 |
III-2, 44.6/F | platyspondyly, mild scoliosis | + | N/A | + | SFN | 0.875 | −2.4/−2.0 | 0.638 | −2.4/−2.4 | 0.756 | −1.8/−1.7 |
III-4, 41.4/F | N/A | N/A | N/A | N/A | N/A | 0.842 | −1.7/−2.3 | 0.679 | −1.6/−2.1 | 0.800 | −0.9/−1.3 |
III-5, 39.5/M | N/A | + | N/A | + | N/A | 0.701 | −2.7/−3.2 | 0.633 | −2.2/−2.7 | 0.678 | −2.3/−2.4 |
III-8, 33.3/F | platyspondyly | + | N/A | - | - | 0.945 | −0.7/−1.4 | 0.640 | −1.9/−2.4 | 0.632 | −2.2/−2.6 |
III-9, 28.9/M | platyspondyly, ISEP | + | N/A | + | SFN | 1.094 | 0.1/0.1 | 0.849 | −1.0/−1.0 | 0.893 | −0.8/−0.8 |
III-13, 25.7/M | platyspondyly, ISEP | + | N/A | + | SFN | 1.053 | −0.3/−0.2 | 0.803 | −1.5/−1.3 | 0.829 | −1.3/−1.2 |
IV-4, 15.1/M | platyspondyly, mild scoliosis | + | + | - | SFN | 0.861 | N/A | 0.797 | N/A | 0.798 | N/A |
IV-5, 4.6/M | BSVB | + | + | - | IAPF | 0.416 | N/A | 0.576 | N/A | 0.553 | N/A |
IV-6, 6.3/F | BSVB | + | + | - | IAPF | 0.574 | N/A | 0.537 | N/A | 0.467 | N/A |
F female, M male, OA osteoarthritis, L1-4 lumber spine 1–4, Neck femoral neck, Total total hip, ISEP irregular sclerotic end plates, BSVB bullet-shaped vertebral bodies, SFN short femoral necks, IAPF irregular acetabulum and proximal femur, N/A not available, + denotes yes, – denotes unobserved
aRoman numerals indicate generation, and arabic numbers indicate the order of offspring within a generation
bBone mineral density was qualified using dual-energy X-ray absorptiometry, and Z-scores/T-scores were calculated based on equipment-specific references27