Observational studyAJNR. American journal of neuroradiology2019
Cerebellar Heterotopias: Expanding the Phenotype of Cerebellar Dysgenesis in CHARGE Syndrome.
Observational study in AJNR. American journal of neuroradiology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 9 citations in OpenAlex.
- Genetic Insights in Hindbrain Abnormalities Through Network Analysis Expose Key Biological Pathways in Hindbrain Development.Cerebellum (London, England) · 2025Article
- Coronal Clival Cleft in CHARGE Syndrome: Fetal MRI Series.AJNR. American journal of neuroradiology · 2025Article
- Neuroradiologic, Clinical, and Genetic Characterization of Cerebellar Heterotopia: A Pediatric Multicentric Study.AJNR. American journal of neuroradiology · 2025Article
- Cerebellar Heterotopia: Broadening the Neuroradiological Spectrum of KBG Syndrome.Cerebellum (London, England) · 2024Article
- Persistent Trigeminal Artery: A Novel Imaging Finding in CHARGE Syndrome.AJNR. American journal of neuroradiology · 2021Article
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Authors and funding
4 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background and purposeColoboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness (CHARGE) syndrome is a multisystem developmental disorder associated with a number of well-described clinical and imaging findings, including cerebellar hypoplasia. We observed cerebellar heterotopias on MR imaging in 2 patients with CHARGE, confirmed by postmortem examination. We sought to determine the prevalence and define the characteristics of similar findings on MR imaging for a cohort of patients with CHARGE syndrome. MATERIALS AND
methodsWe performed a retrospective, observational, cross-sectional study to assess the prevalence and characteristic features of cerebellar heterotopias in 35 patients with CHARGE syndrome with available brain MR imaging studies, as well as to evaluate additional features of cerebellar dysgenesis.
resultsCerebellar heterotopias were identified in 27/35 (77%) patients with CHARGE, characteristic in both location and appearance. Additional features of cerebellar dysgenesis were present in 31/34 evaluable patients (91%), including inferior vermian hypoplasia (90%), anteromedial rotation of the inferior tonsils (90%), and disorganized foliation of the cerebellar hemispheres (74%) or superior vermis (16%).
conclusionsPatients with CHARGE syndrome have a high prevalence of characteristic cerebellar heterotopias and disorganized foliation and abnormal cerebellar morphology, thereby expanding the phenotype of cerebellar dysgenesis in this syndrome.
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