{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T03:08:55Z","timestamp":1785899335664,"version":"3.56.0"},"reference-count":72,"publisher":"Public Library of Science (PLoS)","issue":"2","license":[{"start":{"date-parts":[[2022,2,24]],"date-time":"2022-02-24T00:00:00Z","timestamp":1645660800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["K23HD079605"],"award-info":[{"award-number":["K23HD079605"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["R21HD094130"],"award-info":[{"award-number":["R21HD094130"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Susan Saltonstall Foundation"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:p>Dandy-Walker malformation (DWM) is a common prenatally diagnosed cerebellar malformation, characterized by cystic dilatation of the fourth ventricle, upward rotation of the hypoplastic vermis, and posterior fossa enlargement with torcular elevation. DWM is associated with a broad spectrum of neurodevelopmental abnormalities such as cognitive, motor, and behavioral impairments, which cannot be explained solely by cerebellar malformations. Notably, the pathogenesis of these symptoms remains poorly understood. This study investigated whether fetal structural developmental abnormalities in DWM extended beyond the posterior fossa to the cerebrum even in fetuses without apparent cerebral anomalies. Post-acquisition volumetric fetal magnetic resonance imaging (MRI) analysis was performed in 12 fetuses with DWM and 14 control fetuses. Growth trajectories of the volumes of the cortical plate, subcortical parenchyma, cerebellar hemispheres, and vermis between 18 and 33 weeks of gestation were compared. The median (interquartile range) gestational ages at the time of MRI were 22.4 (19.4\u201324.0) and 23.9 (20.6\u201329.2) weeks in the DWM and control groups, respectively (p = 0.269). Eight of the 12 fetuses with DWM presented with associated cerebral anomalies, including hydrocephalus (n = 3), cerebral ventriculomegaly (n = 3), and complete (n = 2) and partial (n = 2) agenesis of the corpus callosum (ACC); 7 presented with extracerebral abnormalities. Chromosomal abnormalities were detected by microarray analysis in 4 of 11 fetuses with DWM, using amniocentesis. Volumetric analysis revealed that the cortical plate was significantly larger in fetuses with DWM than in controls (p = 0.040). Even without ACC, the subcortical parenchyma, whole cerebrum, cerebellar hemispheres, and whole brain were significantly larger in fetuses with DWM (n = 8) than in controls (p = 0.004, 0.025, 0.033, and 0.026, respectively). In conclusion, volumetric fetal MRI analysis demonstrated that the development of DWM extends throughout the brain during the fetal period, even without apparent cerebral anomalies.<\/jats:p>","DOI":"10.1371\/journal.pone.0263535","type":"journal-article","created":{"date-parts":[[2022,2,24]],"date-time":"2022-02-24T18:35:18Z","timestamp":1645727718000},"page":"e0263535","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":17,"title":["Regional brain development in fetuses with Dandy-Walker malformation: A volumetric fetal brain magnetic resonance imaging study"],"prefix":"10.1371","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6619-451X","authenticated-orcid":true,"given":"Shizuko","family":"Akiyama","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3889-7293","authenticated-orcid":true,"given":"Neel","family":"Madan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George","family":"Graham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osamu","family":"Samura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rie","family":"Kitano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9876-314X","authenticated-orcid":true,"given":"Hyuk Jin","family":"Yun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6477-3390","authenticated-orcid":true,"given":"Alexa","family":"Craig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomohiro","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsushi","family":"Hozawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen","family":"Grant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiho","family":"Im","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3860-7062","authenticated-orcid":true,"given":"Tomo","family":"Tarui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2022,2,24]]},"reference":[{"issue":"3\u20134","key":"pone.0263535.ref001","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1159\/000501238","article-title":"Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Study","volume":"53","author":"M Santoro","year":"2019","journal-title":"Neuroepidemiology"},{"issue":"4","key":"pone.0263535.ref002","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1159\/000077963","article-title":"Dandy-Walker malformation: a review of 78 cases diagnosed by prenatal sonography","volume":"19","author":"R Has","year":"2004","journal-title":"Fetal Diagn Ther"},{"issue":"10","key":"pone.0263535.ref003","doi-asserted-by":"crossref","first-page":"886","DOI":"10.1177\/0883073817712589","article-title":"The Most Common Comorbidities in Dandy-Walker Syndrome Patients: A Systematic Review of Case Reports","volume":"32","author":"E Stambolliu","year":"2017","journal-title":"J Child Neurol"},{"key":"pone.0263535.ref004","first-page":"263","volume-title":"Neuroradiology: the requisites","author":"DM Yousem","year":"2010","edition":"3"},{"key":"pone.0263535.ref005","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/B978-0-323-42876-7.00004-1","volume-title":"Volpe\u2019s neurology of the newborn","author":"AJ du Plessis","year":"2018","edition":"6"},{"issue":"6","key":"pone.0263535.ref006","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1159\/000088044","article-title":"Fetal MRI of a severe Dandy-Walker malformation with an enlarged posterior fossa cyst causing severe hydrocephalus","volume":"20","author":"M Teksam","year":"2005","journal-title":"Fetal Diagn Ther"},{"issue":"3","key":"pone.0263535.ref007","doi-asserted-by":"crossref","first-page":"515","DOI":"10.3171\/jns.1984.61.3.0515","article-title":"The Dandy-Walker malformation. 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