Question
A 2 year old girl who is exclusively breastfed has bowed legs and delayed walking.
- Describe the radiograph.
- What investigations confirm the diagnosis?
- Outline the types of rickets and their treatment.
Answer
Radiograph
- Genu varum with bowing of the femora and tibiae
- Widened, cupped and frayed metaphyses
- Widened physes
- Osteopenia
- Look for rachitic rosary and Looser zones
Investigations
| Type | Calcium | Phosphate | ALP | PTH | 25 OH vitamin D |
|---|---|---|---|---|---|
| Nutritional | Low or normal | Low | High | High | Low |
| Vitamin D dependent type 1 | Low | Low | High | High | Normal |
| X linked hypophosphataemic | Normal | Very low | High | Normal | Normal |
Treatment
- Nutritional, vitamin D (cholecalciferol) and calcium supplements
- X linked hypophosphataemia (PHEX mutation, high FGF23), burosumab or phosphate with calcitriol
- Type 1 vitamin D dependent, calcitriol
- Type 2 (receptor defect), high dose calcitriol and calcium
- Most deformity corrects with medical treatment
- Guided growth (hemiepiphysiodesis) or osteotomy for persistent deformity after medical control
Related pages
Author Contributions
Orthofracs team
Reviewed by Professor Phong Tran, Head of Orthopaedic Surgery, Western Health. Last updated 10 October 2026.