Use of three-dimensional ultrasound to establish the prenatal diagnosis of Fryns syndrome.
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.
Van Wymersch
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Département d'Echographie Obstétricale et Gynécologique, Centre Médico-Chirurgical et Obstétrical de la Sécurité sociale, Strasbourg, France.
Favre
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R
Gasser
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B
D000328:Adult; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging*; D005260:Female; D006548:Hernia, Diaphragmatic; D006801:Humans; D007091:Image Processing, Computer-Assisted; D007621:Karyotyping; D008168:Lung / Q000473:pathology; D018191:Lymphangioma, Cystic / Q000000981:diagnostic imaging; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal