Wolf–Hirschhorn syndrome
Keywords:
High forehead, Highly arched eyebrows, Epicanthal folds, Fish-like mouth
Abstract
The Wolf–Hirschhorn syndrome (WHS) is a rare chromosomal disorder associated with a partial deletion of the short arm of chromosome 4. The major features of this disorder include a characteristic facial appearance such as a high forehead, highly arched eyebrows, epicanthal folds,coloboma iris and retina, short philtrum, fish-like mouth, low set ears, micrognathia, delayed growth and delayed developmental milestones, intellectual disability and seizures. We are hereby reporting a case which showed typical phenotypic facial features at birth with cloudy cornea.
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References
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2. Coles K, Mackenzie M, Crolla J, Harvey J, Starr J, Howard F, et al. A complex rearrangement associated with sex reversal and the Wolf- Hirschhorn syndrome: A cytogenetic and molecular study. J Med Genet 1992;29:400-6. [PubMed]
3. Maas NM, Van Buggenhout G, Hannes F, et al. Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH). J Med Genet. 2008 Feb. 45(2):71-80. [PubMed]
4. Shannon NL, Maltby EL, Rigby AS, Quarrell OW. An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality. J Med Genet. 2001 Oct;38(10):674-9. [PubMed]
5. Wieczorek D. Wolf-Hirschhorn syndrome. Orphanet encyclopedia. 2003. Sep, [Last accessed on 2016 Apr 25]. [PubMed]
6. Dickmann A, Parrilla, A. Salerni, G. Savino, I. Vasta, M. Zollino, S. Petroni and G. Zampino, 2009. Ocular manifestations in Wolf-Hirschhorn syndrome. JAAPOS Jun. 13(3): 264-7. [PubMed]
7. Rugmini K, SubhaL ,Soorya R. Wolf-Hirschhorn Syndrome with Buphthalmos .wjms , 2014 11 (1): 153-154.
8. Sifakis S, Manolakos E, Vetro A, Kappou D, Peitsidis P, Kontodiou M, et al,. Prenatal diagnosis of Wolf-Hirschhorn Syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature. Molecular Cytogenetics; 2012. 5: 12. [PubMed]
9. Zollino M, Murdolo M, Marangi G, Pecile V, Galasso C, Mazzanti L, Neri G. On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review. Am J Med Genet C Semin Med Genet. 2008 Nov 15;148C(4):257-69. [PubMed]
CITATION
DOI: 10.17511/ijpr.2016.i07.09
Published: 2016-07-31
How to Cite
Dr Rugmini Kamalammal, Dr Shivaprakash N C, & Dr NaveenKS. (2016). Wolf–Hirschhorn syndrome. Pediatric Review: International Journal of Pediatric Research, 3(7), 513-515. https://doi.org/10.17511/ijpr.2016.i07.09
Issue
Section
Case Report
Copyright (c) 2016 Author (s). Published by Siddharth Health Research and Social Welfare Society
This work is licensed under a Creative Commons Attribution 4.0 International License.
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