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. 2024 Oct 16;12:60. doi: 10.1038/s41413-024-00364-2

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