Table 3 Skeletal characteristics of the SATB2 cohort
SATB2 cohort, 19 patients | |
Age (years ± SD) | 9.2 (1–19 years) |
Female gender (N, %) | 9/19 (47%) |
Clinically reported fractures (N, %) | 9/19 (47%) |
Radiological fracture (N, %) | |
Fragility fracture (N, %) | 6/17 (35%) |
Low bone mineral density at the lumber spine or total hip (N, %) | |
(Z-score ≤ − 2.0 SD) | 7/17 (41%) |
Fragility fracture and/or Low bone mineral density | |
(Z-score ≤ − 2.0 SD) (N, %) | 11/17 (65%) |
X-ray findings | |
Calvaria | |
Digitiformes Impressions (N, %) | 8/14 (57%) |
Demineralization (N, %) | 10/14 (71%) |
Spine | |
Vertebral compression fracture (N, %) | 6/17 (35%) |
Cortical fine (N, %) | 15/17 (85%) |
Demineralization (N, %) | 16/17 (94%) |
Tubular bones | |
Demineralization (N, %) | 18/19 (95%) |
Streak metaphysis (N, %) | 13/19 (68%) |
Small epiphysis (N ,%) | 12/19 (63%) |
Cortical foliated (N, %) | 15/19 (79%) |
Cortical thick (N, %) | 7/19 (37%) |
Hands | |
Distal phalanges shortened and widened (N, %) | 7/16 (43%) |
aBMD | |
Lumbar spine Z-score (mean, SD) | − 1.81 ± 1.26 |
Total hip Z-score (mean, SD) | − 1.37 ± 0.94 |
Biochemical findings | |
Total Serum Calcium (2.20–2.60, mean, ± SD) | 2.41 ± 0.11 |
Serum Phosphate (mean, ± SD) | 1.55 ± 0.35 |
Ionized Calcium (1.1–1.3 mmol/L) | 1.24 ± 0.04 |
25 OH Vit D (30–60 ng/ml) | 27.2 ± 8.1 SD |
1,25 OH Vit D (30–80 ng/l) | 64.96 ± 20.0 SD |
ALP (UI/L)* | 366.89 ± 114 SD (0.86 ± 0.28 ULM) |
Osteocalcin (microg/l)* | 92.40 (1.11 ULM) |
P1NP (ng/ml)* | 964.21 (1.65 ULM) |
CTX (pmol/l)* | 14221 (0.79 ULM) |
PTH (10–50 pg/ml) | 34 (0.74 ULM) |