Apparent postnatal onset of some manifestations of the Wiedemann-Beckwith syndrome

Authors

  • David Chitayat,

    1. Department of Medical Genetics, British Columbias Children's Hospital and the University of British Columbia, Vancouver, Canada
    Search for more papers by this author
  • Avi Rothchild,

    1. Special Care Nursery, British Columbias Children's Hospital and the University of British Columbia, Vancouver, Canada
    Search for more papers by this author
  • Emily Ling,

    1. Special Care Nursery, British Columbias Children's Hospital and the University of British Columbia, Vancouver, Canada
    Search for more papers by this author
  • J. M. Friedman,

    Corresponding author
    1. Department of Medical Genetics, British Columbias Children's Hospital and the University of British Columbia, Vancouver, Canada
    • Department of Medical Genetics, University Hospital-Shaughnessy Site, 4500 Oak Street, Vancouver, B.C., Canada V6H 3N1
    Search for more papers by this author
  • Robert M. Couch,

    1. Metabolic Investigation Unit, British Columbias Children's Hospital and the University of British Columbia, Vancouver, Canada
    Search for more papers by this author
  • Siu-Li Yong,

    1. Department of Medical Genetics, British Columbias Children's Hospital and the University of British Columbia, Vancouver, Canada
    Search for more papers by this author
  • Virginia J. Baldwin,

    1. Department of Pathology, British Columbias Children's Hospital and the University of British Columbia, Vancouver, Canada
    Search for more papers by this author
  • Judith G. Hall

    1. Department of Medical Genetics, British Columbias Children's Hospital and the University of British Columbia, Vancouver, Canada
    Search for more papers by this author

Abstract

We report on 2 patients who were apparently normal at birth but later developed characteristics of Wiedemann-Beckwith syndrome (WBS). Both had hypoglycemia neonatally and gradually developed coarse facial changes, umbilical hernia, and macroglossia. Renal sonography done after the macroglossia developed showed large kidneys in both. The placentas were carefully examined in both cases but findings described as typical of WBS were only found in one.

The clinical evolution of these infants suggests that some WBS manifestations may have their onset postnatally in some cases. We postulate that the cellular hyperplasia and hypertrophy characteristic of WBS may be caused by persistent rests of embryonal cells that secrete paracrine and/or endocrine growth factors.

Ancillary