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 |