D. Vanwymersch et al., USE OF 3-DIMENSIONAL ULTRASOUND TO ESTABLISH THE PRENATAL-DIAGNOSIS OF FRYNS SYNDROME, Fetal diagnosis and therapy, 11(5), 1996, pp. 335-340
Three-dimensional (3D) imaging permits surface reconstructions that al
low a better view of the appearance of organs. We report a case of a f
etus with cystic hygroma diagnosed at 11 weeks of gestation, associate
d 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 esta
blish a prenatal diagnosis of Fryns syndrome, confirmed by autopsy.