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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\u2013mesencephalic 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>","DOI":"10.1002\/acn3.51448","type":"journal-article","created":{"date-parts":[[2021,9,12]],"date-time":"2021-09-12T17:46:01Z","timestamp":1631468761000},"page":"2004-2012","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["L1CAM variants cause two distinct imaging phenotypes on fetal MRI"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8724-6721","authenticated-orcid":false,"given":"Andrea","family":"Accogli","sequence":"first","affiliation":[{"name":"Medical Genetics Unit IRCCS Istituto Giannina Gaslini Genoa Italy"},{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health University of Genoa Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stacy","family":"Goergen","sequence":"additional","affiliation":[{"name":"Monash Imaging Monash Health Clayton Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6407-7950","authenticated-orcid":false,"given":"Giana","family":"Izzo","sequence":"additional","affiliation":[{"name":"Department of Pediatric Radiology and Neuroradiology V. 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