Early Prenatal Sonographic Diagnosis of Lethal Arthrogryposis Multiplex Congenita: A Case Presentation

Authors

  • Kazım Gezginç Selçuk University Meram Faculty of Medicine Department of Obstetrics and Gynecology, Konya
  • Rengin Karataylı Selçuk University Meram Faculty of Medicine Department of Obstetrics and Gynecology, Konya
  • Fatma Yazıcı Selçuk University Meram Faculty of Medicine Department of Obstetrics and Gynecology, Konya
  • Tuba Tursun Selçuk University Meram Faculty of Medicine Department of Obstetrics and Gynecology, Konya
  • Ali Acar Selçuk University Meram Faculty of Medicine Department of Obstetrics and Gynecology, Konya

Keywords:

Arthrogryposis multiplex congenita, Prenatal diagnosis, Nuchal translucency

Abstract

In this report, a 32 years old woman with increased nuchal translucency at 11th weeks of gestation and the diagnosis of Arthrogryposis Multiplex Congenita is demonstrated. After informing the family, chorion villus sampling (CVS) was performed. Fetal chromosomal analysis was reported as normal (XX). On control, lower and upper extremities had flexion contractures in 2D obstetrical ultrasonographic examination, besides bilateral club foot and absence of movement was detected. The family was informed and pregnancy was terminated. Lethal arthrogryposis, which is usually diagnosed by the demonstration of multiple joint contractures during the second or third trimester of pregnancy, may present as increased nuchal translucency thickness at early weeks of gestation.

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Published

2012-08-06

How to Cite

1.
Gezginç K, Karataylı R, Yazıcı F, Tursun T, Acar A. Early Prenatal Sonographic Diagnosis of Lethal Arthrogryposis Multiplex Congenita: A Case Presentation. Gynecol Obstet Reprod Med [Internet]. 2012Aug.6 [cited 2024Mar.28];18(2):86-8. Available from: https://gorm.com.tr/index.php/GORM/article/view/247

Issue

Section

Case Reports