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Table 1 Clinical characteristics of the family members

From: Identification of a novel splicing mutation and genotype–phenotype correlations in rare PLS3-related childhood-onset osteoporosis

  Proband Brother Mother Reference
Age at first visit (years) 16 5 40
Height (cm) 178 119 166
Weight (kg) 64 24 54
LS BMD (g/cm2) 0.650 0.505 0.974
LS BMD Z-score  − 3.3  − 1.3  − 1.2
FN BMD (g/cm2) 0.475 0.441 0.736
FN BMD Z-score  − 4.5  − 3.2  − 1.6
TH BMD (g/cm2) 0.435 0.432 0.657
TH BMD Z-score  − 4.5  − 2.4  − 2.4
Age of first fracture 4 years 4 years
Blue sclerae No No
Joint Hyperlaxity No No
Ca (mmol/L) 2.48 2.56 2.25–2.75
P (mmol/L) 1.42 1.33 0.96–1.62
25OHD (ng/ml) 19.22 25.3 30–50
PTH (pg/ml) 6.60 5.4 1.96–9.33
β-CTX (ng/ml) 1.02 1.14 0.26–0.512
  1. BMD bone mineral density, LS lumbar spine, FN femoral neck, TH total hip, Ca calcium, P phosphorus, 25OHD 25-hydroxyvitamin D, PTH parathyroid hormone, β-CTX cross-linked C-telopeptide of type I collagen