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

被引：20

作者：

Halil Aslan

Nilay Karaca

Seher Basaran

Hayri Ermis

Yavuz Ceylan

机构：

[1] Department of Perinatology, SSK Bakirkoy Maternity/Children Hosp, Istanbul

[2] Department of Obstetric/Gynecology, SSK Vakif Gureba Hospital, Istanbul

[3] Department of Genetics PRETAM, Faculty of Medicine, Istanbul University, Istanbul

[4] Department of Obstetric/Gynecology, Faculty of Medicine, Istanbul University, Istanbul

来源：

BMC Pregnancy and Childbirth | / 3卷 / 1期

关键词：

Prenatal diagnosis; Wolf-Hirschhorn syndrome;

D O I：

10.1186/1471-2393-3-1

中图分类号：

学科分类号：

摘要：

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. © 2003 Asian et al; lisencee Central Ltd.

引用

共 18 条

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