Intracranial MRI Findings in a Patient with FBXO11-Related Disorder-Reference-Cited by-同舟云学术

Intracranial MRI Findings in a Patient with FBXO11-Related Disorder

Published:2023-08-28 Issue: Volume: Page:
ISSN:1304-2580
Container-title:Journal of Pediatric Neurology
language:en
Short-container-title:Journal of Pediatric Neurology

Author:

Chandra Vishal¹^ORCID,Aggarwal Anjali²^ORCID,Moen Amanda³^ORCID,Strul Sasha⁴^ORCID,Özütemiz Can⁵^ORCID

Affiliation:

1. College of Liberal Arts, University of Minnesota, Minneapolis, Minnesota, United States

2. Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, United States

3. Division of Pediatric Neurology, Department of Neurology, University of Minnesota, Minneapolis, Minnesota, United States

4. Department of Ophthalmology and Visual Neurosciences, University of Minnesota Medical School, University of Minnesota, Minneapolis, Minnesota, United States

5. Department of Radiology, University of Minnesota, Minneapolis, Minnesota, United States

Abstract

Abstract FBXO11-related intellectual developmental disorder with dysmorphic facies and behavioral abnormalities is a rare genetic disorder. Brain magnetic resonance imaging (MRI) findings associated with this disorder have been sparsely described in literature. This case report describes and depicts brain MRI of a patient with FBXO11-related disorder. The radiologic findings within this report aim to improve the knowledge of the radiologists and clinicians in the detection of this rare condition.

Publisher

Georg Thieme Verlag KG

Subject

Neurology (clinical),Pediatrics, Perinatology and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0043-1772491.pdf

Reference9 articles.

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3. De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies;D Fritzen;Hum Genet,2018

4. The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant;C G Lee;Am J Med Genet A,2020

5. MR imaging of the temporal stem: anatomic dissection tractography of the uncinate fasciculus, inferior occipitofrontal fasciculus, and Meyer's loop of the optic radiation;E L Kier;AJNR Am J Neuroradiol,2004