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Supplementary Table 1: Quantification of bone mineral density and bone microarchitecture parameters in the patient with Hajdu-Cheney syndrome (HCS) in 2014 and 2020.

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Supplementary Table 1: Quantification of bone mineral density and bone microarchitecture parameters in the patient with Hajdu-Cheney syndrome (HCS) in 2014 and 2020.

BMD: bone mineral density, BV/TV: bone volume/tissue volume, Tb.N: trabecular number, Tb.Th: trabecular thickness, Ct.Th: cortical thickness. %: % change. % mean is compared to age- and sex-matched reference values (Burt LA, Liang Z, Sajobi TT, Hanley DA, Boyd SK (2016) Sex- and Site-Specific Normative Data Curves for HR-pQCT. J Bone Miner Res 31:2041-2047).

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Parameter 12/2014 10/2020

DXA L1-L4

BMD, g/cm2 (% mean; %) 0.581 (48%) 0.645 (+ 11.0%)

T-Score () - 5.2 - 4.8 (+ 0.4)

Right Hip

BMD, g/cm2 (% mean; %) 0.663 (61%) 0.658 (- 0.7%)

T-Score () - 3.3 - 3.3 (± 0%)

HR-pQCT Right Tibia

BV/TV, % (% mean; %) 7.1 (40%) 6.5 (- 8.8%)

Tb.N, 1/mm (% mean; %) 0.63 (31%) 0.59 (- 5.2%)

Tb.Th, mm (% mean; %) 0.113 (128%) 0.109 (- 3.8%)

C.Th, mm (% mean; %) 0.45 (24%) 0.30 (- 34%)

Ct.BMD, mg HA/cm3 (% mean; %) 665.7 (85%) 587.2 (- 12%)

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