Citation, DOI, disclosures and article data
Citation:
Radswiki T, Knipe H, Jones J, et al. Wolf-Hirschhorn syndrome. Reference article, Radiopaedia.org (Accessed on 21 Mar 2025) https://doi.org/10.53347/rID-14697
Disclosures:
At the time the article was last revised Henry Knipe had the following disclosures:
- Integral Diagnostics, Shareholder (ongoing)
- Micro-X Ltd, Shareholder (ongoing)
These were assessed during peer review and were determined to
not be relevant to the changes that were made.
View Henry Knipe's current disclosures
Wolf-Hirschhorn syndrome (WHS) is an extremely rare chromosomal anomaly characterized by partial deletion of the p arm of chromosome 4 (4p16.3).
Clinical presentation
There is a large clinical spectrum:
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1. Entezami M, Albig M, Knoll U et-al. Ultrasound Diagnosis of Fetal Anomalies. Thieme. (2003) ISBN:1588902129. Read it at Google Books - Find it at Amazon
-
2. Bergemann AD, Cole F, Hirschhorn K. The etiology of Wolf-Hirschhorn syndrome. Trends Genet. 2005;21 (3): 188-95. doi:10.1016/j.tig.2005.01.008 - Pubmed citation
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3. Battaglia A, Carey JC, Wright TJ. Wolf-Hirschhorn (4p-) syndrome. Adv Pediatr. 2001;48 : 75-113. - Pubmed citation
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4. Agatino Battaglia, Tizania Filippi, Sarah T. South, John C Carey. Spectrum of epilepsy and electroencephalogram patterns in Wolf–Hirschhorn syndrome: experience with 87 patients. (2009) Developmental Medicine & Child Neurology. 51 (5): 373. doi:10.1111/j.1469-8749.2008.03233.x - Pubmed
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5. Carol M. Rumack, Deborah Levine. Diagnostic Ultrasound E-Book. (2017) ISBN: 9780323529631
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6. Battaglia A, Battaglia CJ, Battaglia SS, Battaglia. Wolf-Hirschhorn Syndrome: A Review and Update. (2015) American journal of medical genetics. Part C, Seminars in medical genetics. doi:10.1002/ajmg.c.31449 - Pubmed
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7. Catela, C., Bilbao-Cortes, D., Slonimsky, E., Kratsios, P., Rosenthal, N. and te Welscher, P., 2009. Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated inFgfrl1null mice. Disease Models & Mechanisms, 2(5-6), pp.283-294.
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