Table 3.
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 |