Heterogeneity in Wiedemann-Beckwith syndrome: Anthropometric evidence

Citation
Es. Moore et al., Heterogeneity in Wiedemann-Beckwith syndrome: Anthropometric evidence, AM J MED G, 90(4), 2000, pp. 283-290
Citations number
28
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
90
Issue
4
Year of publication
2000
Pages
283 - 290
Database
ISI
SICI code
0148-7299(20000214)90:4<283:HIWSAE>2.0.ZU;2-P
Abstract
Wiedemann-Beckwith syndrome (WBS) has attracted a great deal of attention b ecause of its genetic complexity. Individuals with WBS can be identified ob jectively by anthropometric analysis. Craniofacial anthropometry in conjunc tion 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 f irst-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. Am. (C) 2000 Wiley-Liss , Inc.