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The sonographic "molar tooth sign" in the diagnosis of Joubert syndrome.
MedLine Citation:
PMID:  21370303     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
The characteristic imaging finding common to Joubert Syndrome (JS) and related disorders (JSRD) is the "molar tooth sign" (MTS). The prenatal imaging diagnosis of JS using both ultrasound and fetal MRI in families with an affected child has been reported. We report 2 cases in which the MTS was identified by sonography, prior to fetal MRI or genetic testing. Since definitive prenatal genetic testing may not be conclusive in JS, the ability to identify the MTS sonographically before 24 weeks provides a valuable adjunct to prenatal diagnosis. Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd.
Authors:
Denise Pugash; Tracey Oh; Kimberly Godwin; Ashley J Robinson; Angela Byrne; Margot I Van Allen; Horacio Osiovich
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-3-2
Journal Detail:
Title:  Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology     Volume:  -     ISSN:  1469-0705     ISO Abbreviation:  -     Publication Date:  2011 Mar 
Date Detail:
Created Date:  2011-3-3     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9108340     Medline TA:  Ultrasound Obstet Gynecol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd.
Affiliation:
Departments of Radiology and Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, British Columbia Women's Hospital and University of British Columbia, Vancouver, Canada. dpugash@cw.bc.ca.
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