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. 2003 Jan 24;3(1):1.
doi: 10.1186/1471-2393-3-1.

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

Halil Aslan  1 , Nilay Karaca, Seher Basaran, Hayri Ermis, Yavuz Ceylan
Affiliations

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

Halil Aslan et al. BMC Pregnancy Childbirth. .

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.

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Figures

Figure 1
Figure 1
Sonographic appearance of fetal genitalia. Note the irregular distal portion of fetal penis and undescended testes.
Figure 2
Figure 2
Ultrasound scan showing the deformity of foot.
Figure 4
Figure 4
Note the deletion of short arm of the chromosome 4
Figure 3
Figure 3
Photograph of the neonate with the Wolf-Hirschhorn syndrome. Note the hypospadias and calcaneovalgus deformity of the foot.
Figure 5
Figure 5
Fluorescent in situ hybridization. Chromosome 4 is green and the other chromosomes are blue. Neither of the chromosome 4 do not carry an extra piece of DNA.
See this image and copyright information in PMC

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