Prenatal Diagnosis of Fryns Syndrome: A Case Report

Authors

  • Miğraci Tosun Department of Obstetrics and Gynecology Ondokuz Mayıs University Faculty of Medicine, Samsun
  • Handan Çelik Department of Obstetrics and Gynecology Ondokuz Mayıs University Faculty of Medicine, Samsun
  • Emre Beşe Department of Obstetrics and Gynecology Ondokuz Mayıs University Faculty of Medicine, Samsun
  • Erdal Malatyalıoğlu Department of Obstetrics and Gynecology Ondokuz Mayıs University Faculty of Medicine, Samsun
  • Mehmet Çetinkaya Department of Obstetrics and Gynecology Ondokuz Mayıs University Faculty of Medicine, Samsun
  • Mehmet Türe Department of Medical Genetics Ondokuz Mayıs University Faculty of Medicine, Samsun
  • Gönül Oğur Department of Medical Genetics Ondokuz Mayıs University Faculty of Medicine, Samsun

Keywords:

Fryns syndrome, Congenital diaphragmatic hernia, Ultrasound findings

Abstract

Fryns syndrome (FS) is a rare malformation. Major diagnostic criteria include congenital diaphragmatic hernia, distal limb and nail hypoplasia and abnormal facial appearance. We report a case of FS referred to our clinic at 25 weeks’ gestation with a diagnosis of congenital diaphragmatic hernia. Sonographic examination of the fetus revealed microretrognathia, a short neck with nuchal folds (17 mm), a left-sided diaphragmatic hernia, bilateral pelviectasis and cutaneous edema. The diagnosis of FS was made after exclusion of chromosome aberrations by amniocentesis and delivery of the fetus. Macroscopic inspection revealed low-set posteriorly rotated ears, microretrognathia, complet mid cleft palate, a broad nasal
bridge, low hairline, short neck, distal limb hypoplasia, rocker bottom feet, atypical female dominant genitalia.

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Published

2009-04-11

How to Cite

1.
Tosun M, Çelik H, Beşe E, Malatyalıoğlu E, Çetinkaya M, Türe M, Oğur G. Prenatal Diagnosis of Fryns Syndrome: A Case Report. Gynecol Obstet Reprod Med [Internet]. 2009Apr.11 [cited 2022Jul.5];15(1):47-9. Available from: https://www.gorm.com.tr/index.php/GORM/article/view/382

Issue

Section

Case Reports