Genetic Counseling in a Case of a Pregnant Woman with Goldenhar Syndrome (Oculoauriculovertebral Spectrum)

Authors

  • Aslıhan Yazıcıoğlu Hacettepe University Medical Faculty Department of Obstetrics and Gynecology, Ankara
  • Özge Senem Yücel Hacettepe University Medical Faculty Department of Obstetrics and Gynecology, Ankara
  • İlker Selçuk Hacettepe University Medical Faculty Department of Obstetrics and Gynecology, Ankara
  • Gökhan Boyraz Hacettepe University Medical Faculty Department of Obstetrics and Gynecology, Ankara
  • Mert Turğal Hacettepe University Medical Faculty Department of Obstetrics and Gynecology, Ankara
  • Özgür Özyüncü Hacettepe University Medical Faculty Department of Obstetrics and Gynecology, Ankara
  • Sevim Balcı Hacettepe University Medical Faculty Department of Clinical Genetics Retired Staff, Ankara
  • Sinan Beksaç Hacettepe University Medical Faculty Department of Obstetrics and Gynecology, Ankara

Keywords:

Goldenhar syndrome, Oculoauriculovertebral spectrum, Pregnancy, Cardiovascular malformations, Ventricular septal defect

Abstract

Goldenhar Syndrome also known as oculoauriculovertebral spectrum (OAVS) is a rare syndrome characterized by hemifacial microsomi, microtia, epibulbar dermoids, ear malformations and hemivertebrae. The mode of inheritance is clearly unknown and mostly polygenic etiology. The aim of this presentation is to present this young mother with oculoauriculovertebral spectrum and related problems. Most of the
individuals with this syndrome do not notice themselves before the time of diagnosis. For that reason, we followed this patient’s pregnancy and performed cesarian section due to cephalopelvic disproportion. The enlighting of these patients with this syndrome is very important for the evaluation of this family and for the future pregnancies.

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Published

2012-08-06

How to Cite

1.
Yazıcıoğlu A, Yücel Özge S, Selçuk İlker, Boyraz G, Turğal M, Özyüncü Özgür, Balcı S, Beksaç S. Genetic Counseling in a Case of a Pregnant Woman with Goldenhar Syndrome (Oculoauriculovertebral Spectrum). Gynecol Obstet Reprod Med [Internet]. 2012Aug.6 [cited 2021Apr.15];18(2):89-91. Available from: https://www.gorm.com.tr/index.php/GORM/article/view/248

Issue

Section

Case Reports

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