. 2021 Jun 16;10(7):767–775. doi: 10.1530/EC-21-0102
This work is licensed under a Table 3.
Comparison between the heterozygous and homozygous (presenting symptoms, biochemical, and radiological abnormalities).
| Heterozygous (n = 9) | Homozygous (n = 18) | |
|---|---|---|
| Presenting symptoms: | ||
| Bone pain | 7/9 | 18/18 |
| Short stature | 3/9 | 9/18 |
| Limitation of activity | 5/9 | 13/18 |
| Bone deformity | 1/9 | 7/18 |
| Gait abnormality | 1/9 | 6/18 |
| Hypocalcemia manifestation (Seizure, carpopedal spasm, muscle cramps, and twitching) | 0/9 | 5/18 |
| 25-OH vitamin D levels range, nmol/L | 6–25 | <6 |
| Abnormal bone profile (high parathyroid hormone, low calcium, high alkaline phosphatase) | 4/9 | 16/18 |
| Radiological manifestations: | ||
| Generalized osteopenia | 2/9 | 13/18 |
| Cupping | 0/9 | 4/18 |
| Geno-valgus | 1/9 | 7/18 |
| Rachitic rosary | 0 | 1/18 |
| Normal | 7/9 | 5/18 |