L1CAM variants cause two distinct imaging phenotypes on fetal MRI
dc.contributor.author | Accogli, Andrea | |
dc.contributor.author | Goergen, S | |
dc.contributor.author | Izzo, Giana | |
dc.contributor.author | Mankad, K | |
dc.contributor.author | Krajden Haratz, K | |
dc.contributor.author | Parazzini, C | |
dc.contributor.author | Fahey, M | |
dc.contributor.author | Menzies, L | |
dc.contributor.author | Baptista, Julia | |
dc.contributor.author | Carpineta, L | |
dc.contributor.author | Tortora, Domenico | |
dc.contributor.author | Fulcheri, E | |
dc.contributor.author | Gaetano Vellone, V | |
dc.contributor.author | Paladini, D | |
dc.contributor.author | Spaccini, L | |
dc.contributor.author | Toto, V | |
dc.contributor.author | Trayers, C | |
dc.contributor.author | Ben Sira, L | |
dc.contributor.author | Reches, A | |
dc.contributor.author | Malinger, G | |
dc.contributor.author | Salpietro, V | |
dc.contributor.author | De Marco, P | |
dc.contributor.author | Srour, M | |
dc.contributor.author | Zara, F | |
dc.contributor.author | capra, valeria | |
dc.contributor.author | Rossi, Andrea | |
dc.contributor.author | Severino, Mariasavina | |
dc.date.accessioned | 2022-05-03T18:17:46Z | |
dc.date.issued | 2021-10 | |
dc.identifier.issn | 2328-9503 | |
dc.identifier.issn | 2328-9503 | |
dc.identifier.uri | http://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.extent | 2004-2012 | |
dc.format.medium | Print-Electronic | |
dc.language | en | |
dc.language.iso | eng | |
dc.publisher | Wiley | |
dc.subject | Brain | |
dc.subject | Fetus | |
dc.subject | Humans | |
dc.subject | Magnetic Resonance Imaging | |
dc.subject | Male | |
dc.subject | Nervous System Malformations | |
dc.subject | Neural Cell Adhesion Molecule L1 | |
dc.subject | Phenotype | |
dc.subject | Prenatal Diagnosis | |
dc.subject | Retrospective Studies | |
dc.title | L1CAM variants cause two distinct imaging phenotypes on fetal MRI | |
dc.type | journal-article | |
dc.type | Journal Article | |
dc.type | Multicenter Study | |
dc.type | Research Support, Non-U.S. Gov't | |
plymouth.author-url | https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000694967700001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=11bb513d99f797142bcfeffcc58ea008 | |
plymouth.issue | 10 | |
plymouth.volume | 8 | |
plymouth.publication-status | Published | |
plymouth.journal | Annals of Clinical and Translational Neurology | |
dc.identifier.doi | 10.1002/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.place | United States | |
dcterms.dateAccepted | 2021-08-11 | |
dc.rights.embargodate | 9999-12-31 | |
dc.identifier.eissn | 2328-9503 | |
dc.rights.embargoperiod | Not known | |
rioxxterms.versionofrecord | 10.1002/acn3.51448 | |
rioxxterms.licenseref.uri | http://www.rioxx.net/licenses/all-rights-reserved | |
rioxxterms.licenseref.startdate | 2021-10 | |
rioxxterms.type | Journal Article/Review |