Abstract
We report a 2-year-old girl presenting for failure to thrive noted to have hypercalcemia, renal dysfunction, and nephrocalcinosis. Initial skeletal imaging revealed several abnormalities of bone mineralization, not previously reported in limited case reports. Significant dietary calcium restriction resulted in normal serum calcium levels but also improvement in skeletal abnormalities. Kidney function improved but remained abnormal several years after presentation.
Published Version
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