Human Genetics

, Volume 74, Issue 2, pp 143–154

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
Original Investigations

DOI: 10.1007/BF00282078

Cite this article as:
Pettenati, M.J., Haines, J.L., Higgins, R.R. et al. Hum Genet (1986) 74: 143. doi:10.1007/BF00282078

Summary

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.

Copyright information

© Springer-Verlag 1986

Authors and Affiliations

  • M. J. Pettenati
    • 1
  • J. L. Haines
    • 1
  • R. R. Higgins
    • 1
  • R. S. Wappner
    • 1
  • C. G. Palmer
    • 1
  • D. D. Weaver
    • 1
  1. 1.Department of Medical Genetics and PediatricsIndiana University School of MedicineIndianapolisUSA
  2. 2.Department of PediatricsBowman Gray School of Medicine of Wake Forest UniversityWinston-SalemUSA
  3. 3.Children's Mercy HospitalKansas CityUSA
  4. 4.IndianapolisUSA

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