ArticleAJNR. American journal of neuroradiology2017
Anterior Mesencephalic Cap Dysplasia: Novel Brain Stem Malformative Features Associated with Joubert Syndrome.
Article in AJNR. American journal of neuroradiology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- 선천성 뇌 질환의 영상 소견: 임상 화보.Journal of the Korean Society of Radiology · 2026Review
- Pituitary Gland Duplication Syndrome: An International Imaging Analysis.AJNR. American journal of neuroradiology · 2025Article
- New Insights into the Neuropsychological Profile and Intellectual Quotient Variability in Joubert Syndrome Compared to Other Congenital Cerebellar Malformations.Cerebellum (London, England) · 2024Article
- Single nucleus transcriptomics of ventral midbrain identifies glial activation associated with chronic opioid use disorder.Nature communications · 2023Article
- Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation.AJNR. American journal of neuroradiology · 2023Review
- Characterizing White Matter Tract Organization in Polymicrogyria and Lissencephaly: A Multifiber Diffusion MRI Modeling and Tractography Study.AJNR. American journal of neuroradiology · 2020Article
- Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.BMC medical genetics · 2020Article
- The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis.European radiology · 2019Article
- Review
- Decaying molar tooth sign in Joubert syndrome and related disorders is correlated to a displacement of the corticospinal tract.Neuroradiology · 2017Article
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Authors and funding
8 authors.
Funding
Abstract
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 ectopic white matter tract with a laterolateral transverse orientation. Tractographic reconstructions support the hypothesis of impaired axonal guidance mechanisms responsible for the malformation. The 2 siblings were compound heterozygous for 2 missense variants in the
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