title: Rickets in an infant with Williams syndrome.
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.
authors.affiliation: Department of Pediatrics, University of California Medical Center, San Francisco 94143-0748, USA.
authors.forename: R S
authors.initials: RS
authors.lastname: Mathias
mesh_terms: D002118:Calcium / Q000378:metabolism / Q000652:urine; D005526:Food, Formulated / Q000032:analysis; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007234:Infant, Premature; D007668:Kidney / Q000000981:diagnostic imaging; D008297:Male; D009397:Nephrocalcinosis / Q000378:metabolism / Q000652:urine; D012279:Rickets / Q000097:blood / Q000209:etiology* / Q000235:genetics; D014463:Ultrasonography; D014808:Vitamin D Deficiency / Q000209:etiology; D018980:Williams Syndrome / Q000097:blood / Q000150:complications* / Q000235:genetics
chemical_list: D002118:Calcium