Use of three-dimensional ultrasound to establish the prenatal diagnosis of Fryns syndrome

Fetal Diagn Ther. 1996 Sep-Oct;11(5):335-40. doi: 10.1159/000264336.

Abstract

Three-dimensional (3D) imaging permits surface reconstructions that allow a better view of the appearance of organs. We report a case of a fetus with cystic hygroma diagnosed at 11 weeks of gestation, associated with a diaphragmatic hernia. With the 3D reconstruction, we examined the fetal face much more easily, which presented facial dysmorphology, retrognathia, macrostomia and a broad nasal bridge. The conjunctions of these pathological features and a normal karyotype allowed to establish a prenatal diagnosis of Fryns syndrome, confirmed by autopsy.

MeSH terms

  • Adult
  • Craniofacial Abnormalities / diagnostic imaging*
  • Female
  • Hernia, Diaphragmatic
  • Humans
  • Image Processing, Computer-Assisted
  • Karyotyping
  • Lung / pathology
  • Lymphangioma, Cystic / diagnostic imaging
  • Pregnancy
  • Syndrome
  • Ultrasonography, Prenatal*