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dc.contributor.authorAccogli, A
dc.contributor.authorGoergen, S
dc.contributor.authorIzzo, G
dc.contributor.authorMankad, K
dc.contributor.authorKrajden Haratz, K
dc.contributor.authorParazzini, C
dc.contributor.authorFahey, M
dc.contributor.authorMenzies, L
dc.contributor.authorBaptista, J
dc.contributor.authorCarpineta, L
dc.contributor.authorTortora, D
dc.contributor.authorFulcheri, E
dc.contributor.authorGaetano Vellone, V
dc.contributor.authorPaladini, D
dc.contributor.authorSpaccini, L
dc.contributor.authorToto, V
dc.contributor.authorTrayers, C
dc.contributor.authorBen Sira, L
dc.contributor.authorReches, A
dc.contributor.authorMalinger, G
dc.contributor.authorSalpietro, V
dc.contributor.authorDe Marco, P
dc.contributor.authorSrour, M
dc.contributor.authorZara, F
dc.contributor.authorCapra, V
dc.contributor.authorRossi, A
dc.contributor.authorSeverino, M
dc.date.accessioned2022-05-03T18:17:46Z
dc.date.issued2021-10
dc.identifier.issn2328-9503
dc.identifier.issn2328-9503
dc.identifier.urihttp://hdl.handle.net/10026.1/19167
dc.description.abstract

<jats:title>Abstract</jats:title><jats:p>Data on fetal MRI in L1 syndrome are scarce with relevant implications for parental counseling and surgical planning. We identified two fetal MR imaging patterns in 10 fetuses harboring <jats:italic>L1CAM</jats:italic> mutations: the first, observed in 9 fetuses was characterized by callosal anomalies, diencephalosynapsis, and a distinct brainstem malformation with diencephalic–mesencephalic junction dysplasia and brainstem kinking. Cerebellar vermis hypoplasia, aqueductal stenosis, obstructive hydrocephalus, and pontine hypoplasia were variably associated. The second pattern observed in one fetus was characterized by callosal dysgenesis, reduced white matter, and pontine hypoplasia. The identification of these features should alert clinicians to offer a prenatal <jats:italic>L1CAM</jats:italic> testing.</jats:p>

dc.format.extent2004-2012
dc.format.mediumPrint-Electronic
dc.languageen
dc.language.isoeng
dc.publisherWiley
dc.subjectBrain
dc.subjectFetus
dc.subjectHumans
dc.subjectMagnetic Resonance Imaging
dc.subjectMale
dc.subjectNervous System Malformations
dc.subjectNeural Cell Adhesion Molecule L1
dc.subjectPhenotype
dc.subjectPrenatal Diagnosis
dc.subjectRetrospective Studies
dc.titleL1CAM variants cause two distinct imaging phenotypes on fetal MRI
dc.typejournal-article
dc.typeArticle
plymouth.author-urlhttps://www.ncbi.nlm.nih.gov/pubmed/34510796
plymouth.issue10
plymouth.volume8
plymouth.publisher-urlhttp://dx.doi.org/10.1002/acn3.51448
plymouth.publication-statusPublished
plymouth.journalAnnals of Clinical and Translational Neurology
dc.identifier.doi10.1002/acn3.51448
plymouth.organisational-group/Plymouth
plymouth.organisational-group/Plymouth/Faculty of Health
plymouth.organisational-group/Plymouth/Faculty of Health/Peninsula Medical School
plymouth.organisational-group/Plymouth/Users by role
plymouth.organisational-group/Plymouth/Users by role/Academics
dc.publisher.placeUnited States
dcterms.dateAccepted2021-08-11
dc.rights.embargodate9999-12-31
dc.identifier.eissn2328-9503
dc.rights.embargoperiodNot known
rioxxterms.versionofrecord10.1002/acn3.51448
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserved
rioxxterms.licenseref.startdate2021-10
rioxxterms.typeJournal Article/Review


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