Isolated facial hemihyperplasia: manifestation of Beckwith-Wiedemann syndrome

J Craniofac Surg. 2008 Jan;19(1):279-83. doi: 10.1097/SCS.0b013e31815ca067.

Abstract

Facial asymmetry is a common finding in infants and can be the result of a number of distinctive conditions such as hemifacial microsomia, overgrowth syndromes, a soft tissue tumor, and a vascular malformation. However, overgrowth syndromes such as Beckwith-Wiedemann syndrome (BWS) typically manifest more extensive involvement; it rarely presents as isolated facial overgrowth.Here, we present a 7-year-old boy who presented with facial asymmetry. He was found to have isolated facial hemihyperplasia, involving his right cheek and teeth. No abnormalities were seen in the rest of his examination. The diagnosis of BWS was considered and was confirmed by detection of a methylation abnormality in H19 (DMR1). This case demonstrates that BWS should be considered, even with isolated facial involvement. This is important, as affected patients are predisposed to certain malignancies, especially in the first 5 to 8 years of life. Therefore, specialized surveillance is recommended as the part of management.

Publication types

  • Case Reports

MeSH terms

  • Beckwith-Wiedemann Syndrome / diagnosis*
  • Beckwith-Wiedemann Syndrome / genetics
  • Child
  • Chromosomes, Human, Pair 11 / genetics
  • Diagnosis, Differential
  • Facial Asymmetry / diagnosis*
  • Humans
  • Hyperplasia
  • Male
  • Methyltransferases / genetics

Substances

  • Methyltransferases
  • demethylrapamycin methyltransferase