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Prenatal ultrasonographic features of Joubert syndrome

✍ Scribed by Halil Aslan; Kemal Gungorduk; Gokhan Yildirim; Yusuf Olgac; Yavuz Ceylan

Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 203 KB
Volume: 36
Category: Article
ISSN: 0091-2751
DOI: 10.1002/jcu.20491

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

We describe the prenatal imaging of 2 fetuses at risk for Joubert syndrome (JS). In the first case, the mother, who had previously given birth to a child with JS, was referred to our hospital at 17 weeks' gestation. The prenatal diagnosis of JS complicated with an encephalocele was made. In the second case, the mother had previously given birth to 2 children with JS. A diagnosis of JS complicated with postaxial polydactyly of the right foot was made. In both cases, the pregnancy was terminated following genetic counseling. Postmortem examinations confirmed the diagnosis of JS. © 2008 Wiley Periodicals, Inc. J Clin Ultrasound, 2008

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