Q:

What are the clinical manifestations of hypophosphatemic rickets?

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An 8-year-old male presents with concern for bilateral genu valgum deformity and complaint of pain in both lower limbs on walking or running. Parents note that he has always been the shortest boy in his class at school and his complaints of pain on walking and lower limb deformity have developed and progressed over the past six months. Patient and parents deny any trauma, and there is no history of fractures. Patient does not have any alopecia, or dental problems such as discoloration or abscesses. Patient has a history of polyuria and primary nocturnal enuresis.

What are the clinical manifestations of hypophosphatemic rickets?

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X-linked hypophosphatemia (XLH) may present in childhood with rickets and bone deformities, or in adulthood with muscle weakness, bone pain, fractures. Dental abscesses and enthesopathy (due to calcification of tendons and ligaments) may also be present. ADHR usually has incomplete penetrance and has variable age of onset.

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