Use of Three-Dimensional Ultrasound to Establish the Prenatal Diagnosis of Fryns Syndrome
作者:
Didier Van Wymersch,
Romain Favre,
Bernard Gasser,
期刊:
Fetal Diagnosis and Therapy
(Karger Available online 1996)
卷期:
Volume 11,
issue 5
页码: 335-340
ISSN:1015-3837
年代: 1996
DOI:10.1159/000264336
出版商: S. Karger AG
关键词: Three-dimensional ultrasound;Fryns syndrome;Diaphragmatic hernia;Cystic hygroma;Retrognathia
数据来源: Karger
摘要:
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.
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