SynthesisNeuroradiology2015
Update on neuroimaging phenotypes of mid-hindbrain malformations.
Synthesis in Neuroradiology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 45 citations in OpenAlex.
- Brain and spine malformations and neurodevelopmental disorders in a cohort of children with CAKUT.Pediatric nephrology (Berlin, Germany) · 2024Article
- [Congenital brain malformations].Radiologie (Heidelberg, Germany) · 2024Article
- Rhombencephalosynapsis With Obstructive Hydrocephalus: A Rare Presentation of the Cerebellar Anomaly on MRI Findings.Cureus · 2023Article
- A Proposed Clinical Classification and a Diagnostic Approach for Congenital Ataxias.Neurology. Clinical practice · 2021Review
- Brain fetal neuroradiology: a beginner's guide.Translational pediatrics · 2021Review
- Magnetic resonance imaging of the brainstem in children, part 1: imaging techniques, embryology, anatomy and review of congenital conditions.Pediatric radiology · 2021Review
- The essential role of primary cilia in cerebral cortical development and disorders.Current topics in developmental biology · 2021Review
- Quantitative fetal magnetic resonance imaging assessment of cystic posterior fossa malformations.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2020Article
- Pontine tegmental cap dysplasia with a duplicated internal auditory canal.Radiology case reports · 2019Article
- Neuroimaging Findings in Moebius Sequence.AJNR. American journal of neuroradiology · 2019Observational
- The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis.European radiology · 2019Article
- Isolated neonatal bilateral vocal cord paralysis revealing a unilateral medullary defect: a case report.BMC pediatrics · 2018Article
- MR Imaging Diagnosis of Diencephalic-Mesencephalic Junction Dysplasia in Fetuses with Developmental Ventriculomegaly.AJNR. American journal of neuroradiology · 2017Article
- Caudal Fossa Ratio in Normal Dogs and Eurasier Dogs with VLDLR-Associated Genetic Cerebellar Hypoplasia.Frontiers in veterinary science · 2017Article
- Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).European journal of human genetics : EJHG · 2016Article
- Expanding the spectrum of congenital anomalies of the diencephalic-mesencephalic junction.Neuroradiology · 2016Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeNeuroimaging techniques including structural magnetic resonance imaging (MRI) and functional positron emission tomography (PET) are useful in categorizing various midbrain-hindbrain (MHB) malformations, both in allowing diagnosis and in helping to understand the developmental processes that were disturbed. Brain imaging phenotypes of numerous malformations are characteristic features that help in guiding the genetic testing in case of direct neuroimaging-genotype correlation or, at least, to differentiate among MHB malformations entities. The present review aims to provide the reader with an update of the use of neuroimaging applications in the fine analysis of MHB malformations, using a comprehensive, recently proposed developmental and genetic classification.
methodsWe have performed an extensive systematic review of the literature, from the embryology main steps of MHB development through the malformations entities, with regard to their molecular and genetic basis, conventional MRI features, and other neuroimaging characteristics.
resultsWe discuss disorders in which imaging features are distinctive and how these features reflect the structural and functional impairment of the brain.
conclusionRecognition of specific MRI phenotypes, including advanced imaging features, is useful to recognize the MHB malformation entities, to suggest genetic investigations, and, eventually, to monitor the disease outcome after supportive therapies.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.