Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations.

Adolescent Agenesis of Corpus Callosum / diagnosis Arachnoid Cysts / diagnosis Brain / abnormalities Child Deafness / genetics Diagnosis, Differential Female Hearing Loss, Sensorineural / diagnosis Humans Magnetic Resonance Imaging Male
GPSM2 cerebellar hypoplasia corpus callosum dysgenesis frontal dysplasia polymicrogyria ventriculomegaly

Journal

Journal of child neurology
ISSN: 1708-8283
Titre abrégé: J Child Neurol
Pays: United States
ID NLM: 8606714

Informations de publication

Date de publication:
02 2021
Historique:
pubmed: 6 10 2020
medline: 11 11 2021
entrez: 5 10 2020
Statut: ppublish

Résumé

Chudley-McCullough syndrome, a rare autosomal recessive disorder due to pathogenic variants in the

Identifiants

DOI: 10.1177/0883073820960314 PMID: 33016209
pubmed: 33016209
doi: 10.1177/0883073820960314
doi:

Types de publication

Case Reports Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

152-158

Auteurs

Aglaë Blauen (A)

Pediatric Neurology Unit, 70492Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.
ORCID: 0000-0003-3351-3489

Chloe A Stutterd (CA)

Department of Neurology, 6453Royal Children's Hospital, Melbourne, Australia.
34361Murdoch Children's Research Institute, Melbourne, Australia.
Department of Pediatrics, University of Melbourne, Melbourne, Australia.

Katrien Stouffs (K)

Center for Medical Genetics, UZ Brussel, Brussels, Belgium.
Neurogenetics Research Group, Reproduction-Genetics & Regenerative Medicine Research Cluster, Vrije Universiteit Brussel, Brussels, Belgium.

Dana Dumitriu (D)

Pediatric Radiology Unit, 70492Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.

Naima Deggouj (N)

Department of Oto-Rhino-Laryngology, Cliniques Universitaires Saint-Luc, 83415Université Catholique de Louvain, Brussels, Belgium.

Paul J Lockhart (PJ)

34361Murdoch Children's Research Institute, Melbourne, Australia.
Department of Pediatrics, University of Melbourne, Melbourne, Australia.

Richard J Leventer (RJ)

Department of Neurology, 6453Royal Children's Hospital, Melbourne, Australia.
34361Murdoch Children's Research Institute, Melbourne, Australia.
Department of Pediatrics, University of Melbourne, Melbourne, Australia.

Marie-Cécile Nassogne (MC)

Pediatric Neurology Unit, 70492Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.

Anna C Jansen (AC)

Neurogenetics Research Group, Reproduction-Genetics & Regenerative Medicine Research Cluster, Vrije Universiteit Brussel, Brussels, Belgium.
Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel, Brussels, Belgium.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › Chudley-McCullough Syndrome: A Recognizable...
questionsmedicales.fr › États, signes et symptômes pathologiques › États anatomopathologiques › Agénésie du corps calleux › Chudley-McCullough Syndrome: A Recognizable...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations du système nerveux › Kystes du système nerveux central › Kystes arachnoïdiens › Chudley-McCullough Syndrome: A Recognizable...
questionsmedicales.fr › Système nerveux › Système nerveux central › Encéphale › Chudley-McCullough Syndrome: A Recognizable...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Chudley-McCullough Syndrome: A Recognizable...
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Troubles sensitifs › Troubles de l'audition › Perte d'audition › Surdité › Chudley-McCullough Syndrome: A Recognizable...
questionsmedicales.fr › Diagnostic › Diagnostic différentiel › Chudley-McCullough Syndrome: A Recognizable...
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Troubles sensitifs › Troubles de l'audition › Perte d'audition › Surdité neurosensorielle › Chudley-McCullough Syndrome: A Recognizable...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Chudley-McCullough Syndrome: A Recognizable...
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Imagerie diagnostique › Tomographie › Imagerie par résonance magnétique › Chudley-McCullough Syndrome: A Recognizable...