Journal article
Risk of hepatic neoplasms in Wolf–Hirschhorn syndrome (4p‐): Four new cases and review of the literature
American journal of medical genetics. Part A, Vol.176(11), pp.2389-2394
11/2018
DOI: 10.1002/ajmg.a.40469
PMID: 30289612
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.
Details
- Title: Subtitle
- Risk of hepatic neoplasms in Wolf–Hirschhorn syndrome (4p‐): Four new cases and review of the literature
- Creators
- Agatino Battaglia - Fondazione Stella MarisAmy R.U.L. Calhoun - University of IowaAmanda Lortz - 4p-Support Group, Delaware, Ohio.John C. Carey - University of Utah
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics. Part A, Vol.176(11), pp.2389-2394
- Publisher
- John Wiley & Sons, Inc
- DOI
- 10.1002/ajmg.a.40469
- PMID
- 30289612
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- Number of pages
- 6
- Language
- English
- Date published
- 11/2018
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984354036202771
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