Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature

M. J. Pettenati, J. L. Haines, R. R. Higgins, R. S. Wappner, C. G. Palmer, D. D. Weaver

Research output: Contribution to journalArticlepeer-review

215 Scopus citations

Abstract

The main features of Wiedemann-Beckwith syndrome (WBS) include macroglossia, abdominal wall defects, visceromegaly, gigantism, hypoglycemia, ear creases, nevus flammeus, and mid-face hypoplasia. Twenty-two cases of WBS were examined clinically and cytogenetically, and compared to 226 previously reported cases. Aspects of the clinical evaluations are discussed. All individuals examined were chromosomally normal with no evidence of 11p abnormality as has been reported recently. The relevance of a possible relationship between clinical findings, chromosome abnormalities, and genes present on 11p is discussed. Transmission of this condition is most consistent with autosomal dominant inheritance with incomplete penetrance.

Original languageEnglish (US)
Pages (from-to)143-154
Number of pages12
JournalHuman genetics
Volume74
Issue number2
DOIs
StatePublished - Oct 1 1986

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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