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

Aslan H, Karaca N, Basaran S, Ermis H, Ceylan Y - BMC Pregnancy Childbirth (2003)

Bottom Line: BACKGROUND: Wolf-Hirschhorn syndrome is caused by distal deletion of the short arm of chromosome 4 (4p-).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.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Perinatology, SSK Bakirkoy Maternity and Children Hospital, Istanbul, Turkey. halil34aslan@hotmail.com

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.

No MeSH data available.


Related in: MedlinePlus

Ultrasound scan showing the deformity of foot.
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Figure 2: Ultrasound scan showing the deformity of foot.

Mentions: Examination of the fetal anatomy revealed a deformity of the right lower limb and undescended testes with an irregular distal penis (Figure 1,2). The parents were informed and a cordocentesis was performed. The karyotype analysis revealed a deletion of the short arm of chromosome 4, [46,XY,del(4)(p14)] (Figure 4).


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

Aslan H, Karaca N, Basaran S, Ermis H, Ceylan Y - BMC Pregnancy Childbirth (2003)

Ultrasound scan showing the deformity of foot.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC149368&req=5

Figure 2: Ultrasound scan showing the deformity of foot.
Mentions: Examination of the fetal anatomy revealed a deformity of the right lower limb and undescended testes with an irregular distal penis (Figure 1,2). The parents were informed and a cordocentesis was performed. The karyotype analysis revealed a deletion of the short arm of chromosome 4, [46,XY,del(4)(p14)] (Figure 4).

Bottom Line: BACKGROUND: Wolf-Hirschhorn syndrome is caused by distal deletion of the short arm of chromosome 4 (4p-).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.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Perinatology, SSK Bakirkoy Maternity and Children Hospital, Istanbul, Turkey. halil34aslan@hotmail.com

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.

No MeSH data available.


Related in: MedlinePlus