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CASE REPORTS
JOURNAL ARTICLE
RESEARCH SUPPORT, U.S. GOV'T, P.H.S.
Rickets in an infant with Williams syndrome.
Pediatric Nephrology 2000 June
Calcium homeostasis is altered in patients with Williams syndrome. We report an infant in whom Williams syndrome was diagnosed at 4 weeks who presented with hypercalcemia, hypercalciuria, and medullary nephrocalcinosis. Fluorescence in situ hybridization demonstrated a deletion of the elastin gene on chromosome 7. This infant was treated with a low-calcium/vitamin D-deficient infant formula that resulted in the development of rickets. Replacement of the low-calcium/vitamin D-deficient formula with standard formula led to resolution of the rickets.
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