Skip to main content
Top
Published in: BMC Pregnancy and Childbirth 1/2003

Open Access 01-12-2003 | Case report

Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital hypospadias and foot deformity

Authors: Halil Aslan, Nilay Karaca, Seher Basaran, Hayri Ermis, Yavuz Ceylan

Published in: BMC Pregnancy and Childbirth | Issue 1/2003

Login to get access

Abstract

Background

Wolf-Hirschhorn syndrome is caused by distal deletion of the short arm of chromosome 4 (4p-). We report a case in which intrauterine growth restriction, hypospadias and foot deformity were detected by prenatal ultrasound examination at 29 weeks of gestation.

Case Presentation

A 31-year-old gravida 2 partus 1 woman was referred at 29 weeks' gestation with suspicion of intrauterine growth restriction. Sonographic examination revealed deformity of the right lower limb and undescended testes with an irregular distal penis. A cordocentesis was performed and chromosome analysis revealed a 46,XY,del(4)(p14) karyotype.

Conclusion

The prenatal detection of intrauterine growth restriction, hypospadias and foot deformity should lead doctors to suspect the presence of Wolf-Hirschhorn syndrome.
Appendix
Available only for authorised users
Literature
1.
go back to reference Cooper H, Hirschhorn K: Apparent deletion of short arms of one chromosome (4 or 5) in a child with defects of midline fusion. Hum Chrom Newsl. 1961, 4: 14-16. Cooper H, Hirschhorn K: Apparent deletion of short arms of one chromosome (4 or 5) in a child with defects of midline fusion. Hum Chrom Newsl. 1961, 4: 14-16.
2.
go back to reference Verloes A, Schaaps JP, Herens C, Soyeur D, Hustin C, Dodinval P: Prenatal diagnosis of cystic hygroma and chorioangioma in the Wolf-Hirschhorn syndrome. Prenat Diagn. 1991, 11: 129-132.CrossRefPubMed Verloes A, Schaaps JP, Herens C, Soyeur D, Hustin C, Dodinval P: Prenatal diagnosis of cystic hygroma and chorioangioma in the Wolf-Hirschhorn syndrome. Prenat Diagn. 1991, 11: 129-132.CrossRefPubMed
3.
go back to reference Lurie IW, Lazjuk GL, Ussova I, Presman EB, Gurevich DB: The Wolf-Hirschhorn syndrome. I. Genetics. Clin Genet. 1980, 17: 375-384.CrossRefPubMed Lurie IW, Lazjuk GL, Ussova I, Presman EB, Gurevich DB: The Wolf-Hirschhorn syndrome. I. Genetics. Clin Genet. 1980, 17: 375-384.CrossRefPubMed
4.
go back to reference Snijders RJ, Sherrod C, Gosden CM, Nicolaides KH: Fetal growth retardation associated malformations and chromosomal abnormalities. Am J Obstet Gynecol. 1993, 168: 547-555.CrossRefPubMed Snijders RJ, Sherrod C, Gosden CM, Nicolaides KH: Fetal growth retardation associated malformations and chromosomal abnormalities. Am J Obstet Gynecol. 1993, 168: 547-555.CrossRefPubMed
5.
go back to reference Altherr MR, Bengtsson U, Elder FFB, Ledbetter DH, Wasmuth JJ, McDonald ME, et al: Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. Am J Hum Genet. 1991, 49: 1235-1242.PubMedPubMedCentral Altherr MR, Bengtsson U, Elder FFB, Ledbetter DH, Wasmuth JJ, McDonald ME, et al: Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. Am J Hum Genet. 1991, 49: 1235-1242.PubMedPubMedCentral
6.
go back to reference Quarrel OWJ, Snell RG, Curtis MA, Roberts SH, Harper PS, Shaw DJ: Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome. J Med Genet. 1991, 28: 256-259.CrossRef Quarrel OWJ, Snell RG, Curtis MA, Roberts SH, Harper PS, Shaw DJ: Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome. J Med Genet. 1991, 28: 256-259.CrossRef
7.
go back to reference Goodship J, Curtis A, Cross I, Brown J, Emslie J, Wolstenholme J, et al: A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation. J Med Genet. 1992, 29: 451-454.PubMedPubMedCentral Goodship J, Curtis A, Cross I, Brown J, Emslie J, Wolstenholme J, et al: A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation. J Med Genet. 1992, 29: 451-454.PubMedPubMedCentral
8.
go back to reference Chen CP, Devriendt K, Chern SR, Lee CC, Wang W, Lin SP: Prenatal diagnosis of inherited satellited non-acrocentric chromosomes. Prenat Diagn. 2000, 20: 384-9. 10.1002/(SICI)1097-0223(200005)20:5<384::AID-PD817>3.0.CO;2-2.CrossRefPubMed Chen CP, Devriendt K, Chern SR, Lee CC, Wang W, Lin SP: Prenatal diagnosis of inherited satellited non-acrocentric chromosomes. Prenat Diagn. 2000, 20: 384-9. 10.1002/(SICI)1097-0223(200005)20:5<384::AID-PD817>3.0.CO;2-2.CrossRefPubMed
9.
go back to reference Kohlschmidt N, Zielinski J, Brude E, Schafer D, Olert J, Hallerman C, et al: Prenatal diagnosis of a fetus with a cryptic translocation 4p;18p and Wolf-Hirschhorn syndrome (WHS). Prenat Diagn. 2000, 20: 152-5. 10.1002/(SICI)1097-0223(200002)20:2<152::AID-PD738>3.0.CO;2-P.CrossRefPubMed Kohlschmidt N, Zielinski J, Brude E, Schafer D, Olert J, Hallerman C, et al: Prenatal diagnosis of a fetus with a cryptic translocation 4p;18p and Wolf-Hirschhorn syndrome (WHS). Prenat Diagn. 2000, 20: 152-5. 10.1002/(SICI)1097-0223(200002)20:2<152::AID-PD738>3.0.CO;2-P.CrossRefPubMed
10.
go back to reference Devesa R, Munoz A, Torrents M, Conmas C, Carrera JM: Prenatal diagnosis of isolated hypospadias. Prenat Diagn. 1998, 18: 779-788. 10.1002/(SICI)1097-0223(199808)18:8<779::AID-PD348>3.0.CO;2-3.CrossRefPubMed Devesa R, Munoz A, Torrents M, Conmas C, Carrera JM: Prenatal diagnosis of isolated hypospadias. Prenat Diagn. 1998, 18: 779-788. 10.1002/(SICI)1097-0223(199808)18:8<779::AID-PD348>3.0.CO;2-3.CrossRefPubMed
11.
go back to reference Vinals F, Sepulveda W, Selman E: Prenatal detection of congenital hypospadias in the Wolf-Hirschhorn (4p-) syndrome. Prenat Diagn. 1994, 14: 1166-1169.CrossRefPubMed Vinals F, Sepulveda W, Selman E: Prenatal detection of congenital hypospadias in the Wolf-Hirschhorn (4p-) syndrome. Prenat Diagn. 1994, 14: 1166-1169.CrossRefPubMed
12.
go back to reference Tachdjian G, Fondacci C, Tapia S, Huten Y, Blot P, Nessmann C: The Wolf-Hirschhorn syndrome in fetuses. Clin Genet. 1991, 42: 281-287.CrossRef Tachdjian G, Fondacci C, Tapia S, Huten Y, Blot P, Nessmann C: The Wolf-Hirschhorn syndrome in fetuses. Clin Genet. 1991, 42: 281-287.CrossRef
13.
go back to reference Thompson P: Wolf-Hirschhorn syndrome. Review of the literature and three case studies. J Am Podiatr Med Assoc. 1998, 88: 192-197.CrossRef Thompson P: Wolf-Hirschhorn syndrome. Review of the literature and three case studies. J Am Podiatr Med Assoc. 1998, 88: 192-197.CrossRef
14.
go back to reference Romero R, Pilu G, Jeanty P, ed, et al: Prenatal Diagnosis of Congenital Anomalies, Appleton & Lange: Norwalk. 1988, 65-67. Romero R, Pilu G, Jeanty P, ed, et al: Prenatal Diagnosis of Congenital Anomalies, Appleton & Lange: Norwalk. 1988, 65-67.
15.
go back to reference Battaglia A, Carey JC, Cederholm P, Viskochil DH, Brothman AR, Galasso C: Natural history of Wolf-Hirschhorn: experience with 15 cases. Pediatrics. 1999, 103: 830-836.CrossRefPubMed Battaglia A, Carey JC, Cederholm P, Viskochil DH, Brothman AR, Galasso C: Natural history of Wolf-Hirschhorn: experience with 15 cases. Pediatrics. 1999, 103: 830-836.CrossRefPubMed
16.
go back to reference De Keersmaecker B, Albert M, Hillion Y, Ville Y: Prenatal diagnosis of brain abnormalities in Wolf-Hirschhorn (4p-) syndrome. Prenat Diagn. 2002, 22: 366-70.CrossRefPubMed De Keersmaecker B, Albert M, Hillion Y, Ville Y: Prenatal diagnosis of brain abnormalities in Wolf-Hirschhorn (4p-) syndrome. Prenat Diagn. 2002, 22: 366-70.CrossRefPubMed
Metadata
Title
Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital hypospadias and foot deformity
Authors
Halil Aslan
Nilay Karaca
Seher Basaran
Hayri Ermis
Yavuz Ceylan
Publication date
01-12-2003
Publisher
BioMed Central
Published in
BMC Pregnancy and Childbirth / Issue 1/2003
Electronic ISSN: 1471-2393
DOI
https://doi.org/10.1186/1471-2393-3-1

Other articles of this Issue 1/2003

BMC Pregnancy and Childbirth 1/2003 Go to the issue