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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