Risk of hepatic neoplasms in Wolf-Hirschhorn syndrome (4p-): Four new cases and review of the literature.
Agatino BattagliaAmy R U L CalhounAmanda LortzJohn C CareyPublished in: American journal of medical genetics. Part A (2018)
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.