Risk of hepatic neoplasms in Wolf-Hirschhorn syndrome (4p-): Four new cases and review of the literature

Am J Med Genet A. 2018 Nov;176(11):2389-2394. doi: 10.1002/ajmg.a.40469. Epub 2018 Oct 5.

Abstract

Wolf-Hirschhorn syndrome (WHS) is a rare contiguous gene deletion disorder characterized by distinctive craniofacial features, prenatal/postnatal growth deficiency, intellectual disability, and seizures. Various malformations of internal organs are also seen. Neoplasia has not been documented as a typical feature of WHS. We review the three prior reports of hepatic neoplasia in WHS and add four previously unreported individuals. We propose that, in the context of the rarity of WHS, these seven cases suggest that hepatocellular neoplasia may be a feature of WHS.

Keywords: 4p- syndrome; Wolf-Hirschhorn syndrome; deletion 4p; hepatic adenoma; hepatoblastoma; hepatocellular carcinoma; monosomy 4p.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Liver Neoplasms / complications*
  • Liver Neoplasms / diagnostic imaging
  • Magnetic Resonance Imaging
  • Phenotype
  • Risk Factors
  • Wolf-Hirschhorn Syndrome / diagnostic imaging
  • Wolf-Hirschhorn Syndrome / etiology*
  • Young Adult