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

Agatino Battaglia, Amy R.U.L. Calhoun, Amanda Lortz, John C. Carey

Research output: Contribution to journalArticlepeer-review

Abstract

© 2018 Wiley Periodicals, Inc. 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.
Original languageEnglish
JournalAmerican Journal of Medical Genetics, Part A
DOIs
Publication statusAccepted/In press - Jan 1 2018

Keywords

  • 4p- syndrome
  • deletion 4p
  • hepatic adenoma
  • hepatoblastoma
  • hepatocellular carcinoma
  • monosomy 4p
  • Wolf–Hirschhorn syndrome

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