Abnormal Regulation of Circulating 25-Hydroxyvitamin D in the Williams Syndrome

A. B. Taylor, P. H. Stern, N. H. Bell

Research output: Contribution to journalArticlepeer-review

56 Scopus citations

Abstract

THE Williams syndrome is characterized by the triad supravalvular aortic stenosis, mental retardation, and an elfin facies.1,2 In addition, mild microcephaly, neurologic dysfunction, hallux valgus, hernias, pectus excavatum, and other congenital cardiac and vascular defects may be present. The unique facies is characterized by a medial eyebrow flare, short palpebral fissures, ocular hypotelorism, a depressed nasal bridge, periorbital fullness, strabismus, blue eyes, a stellate pattern in the iris, prominent lips, and molar hyperplasia.2 The syndrome is often associated with idiopathic hypercalcemia of infancy, which usually occurs in the first year of life.3 4 5 6 7 8 9 10 11 Patients have increased sensitivity to vitamin D.5,6 Balance.

Original languageEnglish (US)
Pages (from-to)972-975
Number of pages4
JournalNew England Journal of Medicine
Volume306
Issue number16
DOIs
StatePublished - Apr 22 1982

ASJC Scopus subject areas

  • Medicine(all)

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