Table 2 Radiographic features and bone mineral density of subjects with the CCN2 variant

Subject, Age (year)/ Sex^a	Radiographic features					Bone mineral density^b
Subject, Age (year)/ Sex^a	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

Search