Cited by 162Fetal and Pediatric Neurological DisordersSpinal Dysraphism and MalformationsGenetic and Kidney Cyst Diseases

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Joubert Syndrome and Related Disorders: Spectrum of Neuroimaging Findings in 75 Patients

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Poretti, A., Huisman, T.A.G.M., Scheer, I., Boltshauser, E.·2011·American Journal of Neuroradiology

DOI 10.3174/ajnr.a2517PMC PMC7964342

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Abstract

VH and MTS are the neuroimaging hallmarks of JSRD. We aimed to look at the full spectrum of neuroimaging findings in JSRD and reviewed the MR imaging of 75 patients with JSRD, including 13 siblings and 4 patients with OFD VI. All patients had VH and enlargement of the fourth ventricle. The degree of VH and the form of the MTS were variable. In most patients, the cerebellar hemispheres were normal and the PF was enlarged. Brain stem morphology was abnormal in 30% of the patients. Supratentorial findings included hippocampal malrotation, callosal dysgenesis, migration disorders, cephaloceles, and ventriculomegaly. All patients with OFD VI had a similar pattern, including HH in 2 patients. No neuroimaging-genotype correlation could be found. The wide neuroimaging spectrum in our patients supports the heterogeneity of JSRD. Neuroimaging differences in siblings represent intrafamilial heterogeneity. Due to the absence of a correlation with genotype, neuroimaging findings are of limited value in classifying patients with JSRD.

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Authors: Poretti, A., Huisman, T. A. G. M., Scheer, I., & Boltshauser, E.
Affiliations: University Children's Hospital Zurich (CH)
Johns Hopkins University (US)
University of Zurich (CH)
ORCID: Poretti, A.
Huisman, T.A.G.M.
Boltshauser, E.
Venue: American Journal of Neuroradiology
Publisher: American Society of Neuroradiology (ASNR)
Published: 2011-06-16
Volume: 32
Issue: 8
Pages: 1459-1463
ISSN: 0195-6108 (ISSN-L)
1936-959X
DOI: 10.3174/ajnr.a2517
PMC: PMC7964342
OpenAlex: W2108545390
Cited by: 161
References: 18
Citations by year: 2026: 8 · 2025: 8 · 2024: 4 · 2023: 10 · 2022: 11 · 2021: 12 · 2020: 9 · 2019: 8 · 2018: 3 · 2017: 12 · 2016: 20 · 2015: 17 · 2014: 20 · 2013: 8 · 2012: 8
FWCI: 10.96
Type: journal article
Language: en
Open access: hybrid
doi.org
Licence: cc-by
Locations: American Journal of Neuroradiology (publishedVersion, cc-by)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: National Science Foundation
Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung
Topics: Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
Health Sciences › Medicine › Clinical Neurology › Spinal Dysraphism and Malformations
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
Keywords: Joubert syndrome, Joubert syndrome-related disorders, fourth ventricle enlargement, hippocampal malrotation, callosal dysgenesis, ventriculomegaly, cerebellar vermis
MeSH terms: Abnormalities, Multiple, Adolescent, Adult, Cerebellar Diseases, Cerebellum, Child, Child, Preschool, Eye Abnormalities, Humans, Infant, Infant, Newborn, Retina, Retrospective Studies, Kidney Diseases, Cystic, Young Adult, Neuroimaging

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Joubert Syndrome and Related Disorders: Spectrum of Neuroimaging Findings in 75 Patients

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