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Article

Anterior Mesencephalic Cap Dysplasia: Novel Brain Stem Malformative Features Associated with Joubert Syndrome

24 Aug 2017

Abstract excerpt

SUMMARY: In Joubert syndrome, the “molar tooth” sign can be associated with several additional supra- and infratentorial malformations. Here we report on 3 subjects (2 siblings, 8–14 years of age) with Joubert syndrome, showing an abnormal thick bulging of the anterior profile of the mesencephalon causing a complete obliteration of the interpeduncular fossa. DTI revealed that the abnormal tissue consisted of an...

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PMID: 28838911
DOI: 10.3174/ajnr.a5360

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