We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Rickets in an infant with Williams syndrome.
- Authors
Mathias, R S
- Abstract
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.
- Publication
Pediatric nephrology (Berlin, Germany), 2000, Vol 14, Issue 6, p489
- ISSN
0931-041X
- Publication type
Journal Article
- DOI
10.1007/s004670050800