Heterogeneity in Wiedemann-Beckwith syndrome: Anthropometric evidence

Elizabeth S. Moore, Richard E. Ward, Luis F. Escobar, Mary E. Carlin

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


Wiedemann-Beckwith syndrome (WBS) has attracted a great deal of attention because of its genetic complexity. Individuals with WBS can be identified objectively by anthropometric analysis. Craniofacial anthropometry in conjunction with multivariate statistical analysis can be used to define patterns of variability that appear to relate to specific modes of inheritance that have been proposed for WBS. Our data on 19 affected individuals and their first-degree relatives indicate that the pattern of inheritance rather than the age of subjects may be responsible for the highly variable craniofacial phenotype found in individuals diagnosed with WBS. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)283-290
Number of pages8
JournalAmerican Journal of Medical Genetics
Issue number4
StatePublished - 2000


  • Craniofacial anthropometry
  • Genomic imprinting
  • Pattern profile
  • Wiedemann-Beckwith

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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