Arşiv
Ara
Dergi Kimliği
Online ISSN
1305-3132
Yayın Dönemi
1993 - 2021
Editor-in-Chief
Cihat Şen, Nicola Volpe
Editors
Daniel Rolnik, Mar Gil, Murat Yayla, Oluş Api
Prenatal diagnosis of wolf - hirschhorn syndrome (4p-) in association with congenital hypospadias and clubfoot
Künye
Prenatal diagnosis of wolf - hirschhorn syndrome (4p-) in association with congenital hypospadias and clubfoot. Perinatoloji Dergisi 2002;10(3):241-241
Yazar Bilgileri
- SSK Bakırköy Maternity and Children Hospital Department of Perinatology İstanbul TR
- SSK Vakıf Gureba Hospital Department of Obstetric and Gynecology İstanbul TR
- Faculty of Medicine , İstanbul University Department of Genetics (PRETAM) İstanbul TR
Yayın Geçmişi
Çıkar Çakışması
Çıkar çakışması bulunmadığı belirtilmiştir.
Olgu
A 31-year-old gravida 2 partus 1 woman was referred at 29 weeks' gestation with suspicion of intrauterine growth restriction. Sonographic examination revealed a single live fetus. Fetal biparietal diameter, abdominal circumference and femur length measurements were compatible with 25 weeks' gestation. Amniotic fluid index was 15 cm. Doppler velocimetry of umbilical artery was normal. A 7.3 cm placental thickness was measured.
Examination of the fetal anatomy revealed a deformity of the right lower limb and undescended testes with an irregular distal penis. The parents were informed and a cordocentesis was performed. The karyotype analysis revealed a deletion of the short arm of chromosome 4. After genetic counseling the family elected for termination of the pregnancy. Labor was induced and the woman delivered a stillborn male fetus weighing 900 g. The baby had prominent glabella, short philtrum, low-set ears, hypospadias, undescended testes and pes equinovalgus deformity of the right foot. Except for a large hydropic placenta, no additional anomaly was noted at autopsy. Chromosomal analysis of the woman revealed a normal karyotype.
Sonuç
A 31-year-old gravida 2 partus 1 woman was referred at 29 weeks' gestation with suspicion of intrauterine growth restriction. Sonographic examination revealed a single live fetus. Fetal biparietal diameter, abdominal circumference and femur length measurements were compatible with 25 weeks' gestation. Amniotic fluid index was 15 cm. Doppler velocimetry of umbilical artery was normal. A 7.3 cm placental thickness was measured.
Examination of the fetal anatomy revealed a deformity of the right lower limb and undescended testes with an irregular distal penis. The parents were informed and a cordocentesis was performed. The karyotype analysis revealed a deletion of the short arm of chromosome 4. After genetic counseling the family elected for termination of the pregnancy. Labor was induced and the woman delivered a stillborn male fetus weighing 900 g. The baby had prominent glabella, short philtrum, low-set ears, hypospadias, undescended testes and pes equinovalgus deformity of the right foot. Except for a large hydropic placenta, no additional anomaly was noted at autopsy. Chromosomal analysis of the woman revealed a normal karyotype.
Sonuç
The prenatal detection of intrauterine growth restriction, hypospadias and clubfoot should raise the suspicion of WHS particularly with a normal amniotic fluid.
Anahtar Kelimeler
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Makale Türü Bildiri Özeti |
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Sayfalar 241-241 |
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Künye |
| Perinatoloji Dergisi 2002; 10 (3) |
| PDF Olarak İndir |