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

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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.

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Author notes

  1. M. J. Pettenati

    Present address: Department of Pediatrics, Bowman Gray School of Medicine of Wake Forest University, 27103, Winston-Salem, NC, USA

  2. R. R. Higgins

    Present address: Children's Mercy Hospital, 64108, Kansas City, MO, USA

Authors and Affiliations

  1. Department of Medical Genetics and Pediatrics, Indiana University School of Medicine, 46223, Indianapolis, IN, USA

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

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  1. M. J. Pettenati
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  2. J. L. Haines
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Pettenati, M.J., Haines, J.L., Higgins, R.R. et al. Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature. Hum Genet 74, 143–154 (1986). https://doi.org/10.1007/BF00282078

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