Prenatal Diagnosis of Osteogenesis Imperfecta

Authors

  • Özgür Özyüncü Hacettepe University Faculty of Medicine, Department of Obstetrics and Gynecology Maternal Fetal Medicine and Perinatology Unit, Ankara
  • Zuhal Yapıcı Hacettepe University Faculty of Medicine, Department of Obstetrics and Gynecology Maternal Fetal Medicine and Perinatology Unit, Ankara
  • Gülçin Altınok Hacettepe University Faculty of Medicine, Department of Clinical Pathology, Ankara
  • Sinan Beksaç Hacettepe University Faculty of Medicine, Department of Obstetrics and Gynecology Maternal Fetal Medicine and Perinatology Unit, Ankara

Keywords:

Prenatal Diagnosis, Skeletal dysplasias, Osteogenesis imperfecta

Abstract

Skeletal dysplasias are a group of diseases with a wide spectrum related to bone and cartilage. Some forms are lethal whereas some forms have milder clinical progression. Prenatal diagnosis of skeletal dysplasias may be possible especially when there is an index case in the family. Ultrasonography plays the central role in prenatal diagnosis and most common sonographic features are angulation of long bones, bending of femur or bowing signin the long bones. We present a case whose follow up for fetal short extremities ended with termination of pregnancy. The differential diagnosis is hard and depend especially on the fetal x-ray. Final diagnosis was lethal type osteogenesis imperfecta.

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Published

2010-04-10

How to Cite

1.
Özyüncü Özgür, Yapıcı Z, Altınok G, Beksaç S. Prenatal Diagnosis of Osteogenesis Imperfecta. Gynecol Obstet Reprod Med [Internet]. 2010Apr.10 [cited 2021Mar.3];16(1):51-2. Available from: https://www.gorm.com.tr/index.php/GORM/article/view/336

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Section

Case Reports

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