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Short stature with rickets

Author: Pediatric Oncall

Question
An 11-year-old boy presented with progressive knock knees and short stature since 5 years of age. He was treated with multiple courses of calcium and vitamin D but had no response. On examination, he had florid rickets, genu valgum with a height of 104 cm. He had pallor. Other systemic examination findings were normal. Investigations showed:
• Hemoglobin = 6.7 gm/dl
• WBC count = 8,600/cumm
• Platelet count = 2,17,000/cumm
• Serum calcium = 6.4 mg%, phosphorus = 7.5 mg% and
alkaline phosphatase = 1231 IU/L.

What is the diagnosis?

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