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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