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

• Main Authors: Ermis Hayri, Basaran Seher, Karaca Nilay, Aslan Halil, Ceylan Yavuz
• Format: Article
• Language: English
• Published: BMC 2003-01-01
• Series: BMC Pregnancy and Childbirth
• Subjects: Prenatal diagnosis; Wolf-Hirschhorn syndrome
• Online Access: http://www.biomedcentral.com/1471-2393/3/1

<p>Abstract</p> <p>Background</p> <p>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.</p> <p>Case Presentation</p> <p>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.</p> <p>Conclusion</p> <p>The prenatal detection of intrauterine growth restriction, hypospadias and foot deformity should lead doctors to suspect the presence of Wolf-Hirschhorn syndrome.</p>