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CC BY-NC-ND 4.0 · Journal of Fetal Medicine 2016; 03(04): 179-182
DOI: 10.1007/s40556-016-0101-3
Brief Communication

Joubert Syndrome: Classic Sonographic Signs at 19 Weeks of Gestation

Divya Singh 
1   Department of Radiology, Prime Imaging and Prenatal Diagnostics, Sector 24 D, 160023, Chandigarh, India
,
Ladbans Kaur
1   Department of Radiology, Prime Imaging and Prenatal Diagnostics, Sector 24 D, 160023, Chandigarh, India
,
Meetanpreet Kaur
2   Department of Obstetrics and Gynaecology, Government Medical College, Amritsar, Punjab, India
,
Mangun Kaur
3   Gian Sagar Medical College, Banur, Punjab, India
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Abstract

Joubert syndrome is a rare condition with an incidence of 1:100,000. It has primarily an autosomal recessive inheritance pattern. It is characterized by episodic hyperpnea, ataxia, hypotonia, abnormal eye movements, and varying degrees of intellectual disability. The causative genetic mutations are identifiable in only 50 % of the cases. Hence, neuroimaging in correlation with clinical features form the mainstay in the diagnosis of this entity. The classic imaging appearance is the ‘molar-tooth’ sign in the midbrain which was first described on MRI. The fourth ventricle has a bat-wing or umbrella-like configuration. Our case illustrates the classic imaging signs of Joubert syndrome at 19 weeks of gestation.

Keywords

Joubert - Molar-tooth - Bat wing ventricle - Vermis - Fourth ventricle


Publication History

Received: 11 July 2016

Accepted: 22 August 2016

Article published online:
08 May 2023

© 2016. 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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