Premium
Risk of hepatic neoplasms in Wolf–Hirschhorn syndrome (4p‐): Four new cases and review of the literature
Author(s) -
Battaglia Agatino,
Calhoun Amy R.U.L.,
Lortz Amanda,
Carey John C.
Publication year - 2018
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.40469
Subject(s) - context (archaeology) , craniofacial , feature (linguistics) , medicine , intellectual disability , pediatrics , psychiatry , biology , paleontology , linguistics , philosophy
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.