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)

X Ray results as a percentage of a number of subjects. For DMO, results are given by the mean in g/cm² and SD. For biological results, the mean of the measurements are given. For data whose reference ranges vary with age, we also calculated ULM (Upper Limit Method)

*For normal range, please refer to Additional files. Reference values are presented by age and gender. Section headings are in bold