| Literature DB >> 8256809 |
C A Morris1, I T Thomas, F Greenberg.
Abstract
Williams syndrome (WS) usually occurs sporadically. Few familial cases of Williams syndrome have been described, and those reports have often lacked photographic documentation. We describe 3 families, including a 3-year-old boy and his 34-year-old father, a 2-year-old girl and her 30-year-old mother, and a 3-year-old girl and her 31-year-old mother. None of these patients has supravalvular aortic stenosis or chromosome abnormalities. In all 3 families, the parent with Williams syndrome was diagnosed after the identification of the syndrome in the affected child.Entities:
Mesh:
Year: 1993 PMID: 8256809 DOI: 10.1002/ajmg.1320470409
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299