Prenatal diagnosis of Wolf-Hirshhorn syndrome – case report

Open access

Abstract

Wolf-Hirschhorn syndrome (WHS, MIM 194190) is caused by the loss of the genetic material of the distal segment of chromosome 4p. We present a case of the fetus diagnosed in the second trimester of pregnancy by genetic amniocentesis which was prompted by abnormalities detected on ultrasound.

If the inline PDF is not rendering correctly, you can download the PDF file here.

  • 1. Zespół Wolfa-Hirschhorna- opis przypadku. Foryś S Chilarska T Piotrowicz M Jakubowski L Respondek-Liberska. Ultrasonografia w Ginekologii i Położnictwie 2005; 1; 3: 218-222

  • 2. Prenatal diagnosis of monosomy 4p14-->pter and trisomy 11q25-->qter: clinical presentations and outcomes. Peng HH Wang TH Chao AS Chang YL Chang SD Soong YK. Prenat Diagn. 2005 Dec;25(12):1133-7.

  • 3. A Case of Wolf-Hirschhorn Syndrome and Hypoplastic Left Heart Syndrome. von Elten K Sawyer T Lentz-Kapua S Kanis A Studer M. Pediatr Cardiol. 2012 May 26

  • 4. Fine-grained facial phenotype-genotype analysis in Wolf- Hirschhorn syndrome. Hammond P Hannes F Suttie M Devriendt K Vermeesch JR Faravelli F Forzano F Parekh S Williams S McMullan D South ST Carey JC Quarrell O. Eur J Hum Genet. 2012 Jan;20(1):33-40. doi: 10.1038/ejhg.2011.135. Epub 2011 Jul 27.)

  • 5. Congenital diaphragmatic hernia and a complex heart defect in association with Wolf-Hirschhorn syndrome. Tautz J Veenma D Eussen B Joosen L Poddighe P Tibboel D de Klein A Schaible T. Am J Med Genet A. 2010 Nov;152A(11):2891-4

  • 6. Prenatal 3-dimensional sonographic depiction of the Wolf- Hirschhorn phenotype: the “Greek warrior helmet” and “tulip” signs. Sepulveda W. J Ultrasound Med. 2007 Mar;26(3):407-10

  • 7. Ocular findings in a 4 p- deletion syndrome (Wolf- Hirschhorn). Mayer UM Bialasiewicz AA. Ophthalmic Paediatr Genet. 1989 Mar;10(1):69-72.

  • 8. Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome. Donnai D. Am J Med Genet. 1996 Dec 2;66(1):101-3

  • 9. Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion. Wieczorek D Krause M Majewski F Albrecht B Horn D Riess O Gillessen-Kaesbach G. Eur J Hum Genet. 2000 Jul;8(7):519-26.

Search
Journal information
Metrics
All Time Past Year Past 30 Days
Abstract Views 0 0 0
Full Text Views 185 92 5
PDF Downloads 67 41 0