Premium
Sonographic ‘molar tooth’ sign in the diagnosis of Joubert syndrome
Author(s) -
Pugash D.,
Oh T.,
Godwin K.,
Robinson A. J.,
Byrne A.,
Van Allen M. I.,
Osiovich H.
Publication year - 2011
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1002/uog.8979
Subject(s) - joubert syndrome , medicine , molar , prenatal diagnosis , magnetic resonance imaging , sign (mathematics) , ultrasound , fetus , radiology , orthodontics , pregnancy , genetics , biology , mathematical analysis , mathematics , cilium
Abstract The characteristic imaging finding common to Joubert syndrome and related disorders is the ‘molar tooth’ sign. The prenatal diagnosis of Joubert syndrome using both ultrasound and fetal magnetic resonance imaging (MRI) in families with an affected child has been reported previously. We report two cases in which the molar tooth sign was identified by sonography at 26 + 4 weeks and at 20 + 6 weeks, respectively, prior to fetal MRI or genetic testing. In both cases the finding was subsequently confirmed on fetal MRI. As definitive prenatal genetic testing may not be conclusive in Joubert syndrome, the ability to identify the molar tooth sign sonographically before 24 weeks provides a valuable adjunct to prenatal diagnosis. Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd.