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DOI: 10.1007/s40556-019-00195-w
Joubert Syndrome: Two Different Prenatal Ultrasound Presentations
Abstract
Joubert syndrome is a rare brainstem malformation characterized by hypoplastic vermis, thickened and elongated superior cerebellar peduncles, abnormally shaped 4th ventricle which may be associated with renal, ocular, hepatic orodigitofacial and cranial abnormalities and can be diagnosed on prenatal ultrasound and now is considered a part of Joubert syndrome and related syndromes (JSRD). Two prenatally detected cases of JSRD presented here expand the spectrum of sonological signs which should prompt a fetal medicine specialist to suspect JSRD.
Keywords
Prenatal - Ultrasound - Joubert syndrome - Molar tooth sign - Fetal - TCTN1 - Vermian hypoplasiaPublication History
Received: 09 January 2019
Accepted: 14 February 2019
Article published online:
08 May 2023
© 2019. Society of Fetal Medicine. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)
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