Molar tooth sign - looking beyond the obvious
AbstractThe molar tooth sign was initially identified in Joubert syndrome, named after Marie Joubert who first described it in 1968 as a rare autosomal recessive disorder characterised by the neuroradiological hallmark of the molar tooth sign caused by cerebellar vermian hypoplasia. Subsequently, it emerged that the molar tooth sign encompasses many syndromes that are now grouped together and termed Joubert syndrome and related disorders (JSRDs). Knowledge of the newer classification system and the subtypes is important and helps to direct and interpret imaging studies based on clinical signs so as to avoid delay in diagnosis of the hepatic, oculorenal and renal subtypes of JSRDs in patients in whom the molar tooth sign is identified on brain MRI.
The author(s) retain copyright on work published by AOSIS unless specified otherwise.
Licensing and publishing rights
Author(s) of work published by AOSIS are required to grant AOSIS the unlimited rights to publish the definitive work in any format, language and medium, for any lawful purpose. AOSIS requires journal authors to publish their work in open access under the Creative Commons Attribution 4.0 International (CC BY 4.0) licence.
Read more here: http://creativecommons.org/licenses/by/4.0/.
The authors retain the non-exclusive right to do anything they wish with the published article(s), provided attribution is given to the applicable journal with details of the original publication, as set out in the official citation of the article published in the journal. The retained right specifically includes the right to post the article on the authors’ or their institution’s websites or in institutional repositories.
Previously published work may have been published under a different licence. We advise the community that if they would like to reuse the work to consult the applicable licence at article level.