{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T01:55:10Z","timestamp":1767837310142,"version":"3.49.0"},"reference-count":20,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2025,8,12]],"date-time":"2025-08-12T00:00:00Z","timestamp":1754956800000},"content-version":"vor","delay-in-days":11,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012151","name":"Sanming Project of Medicine in Shenzen Municipality","doi-asserted-by":"publisher","award":["SZSM202311005"],"award-info":[{"award-number":["SZSM202311005"]}],"id":[{"id":"10.13039\/501100012151","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To investigate the abnormal development of cerebral cortical sulci and gyri in fetuses with Overgrowth Syndrome and\/or Cerebral Malformations Due to mTOR Pathway Gene Abnormalities (OCMMPG), focusing on prenatal imaging correlates of mTOR dysregulation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Retrospective analysis of three OCMMPG cases diagnosed via whole\u2010exome sequencing (WES). Sulco\u2010gyral morphology was assessed using 2D cross\u2010sectional imaging and 3D inversion Crystalvue\/Realisticvue (3D\u2010ICRV) rendering.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Polymicrogyria (PMG) was identified in all cases via 2D and 3D\u2010ICRV imaging. The third fetus exhibited a malformed Sylvian fissure and hypoplastic parieto\u2010occipital sulcus (POS). 3D\u2010ICRV revealed cortical thickening and microgyral fusion, aligning with PMG criteria.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The integration of 2D imaging and 3D\u2010ICRV technology enables comprehensive prenatal assessment of sulco\u2010gyral development. Our findings highlight the utility of this approach in detecting mTOR\u2010related cortical dysplasias, particularly in cases with atypical Sylvian fissure or POS hypoplasia.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.70130","type":"journal-article","created":{"date-parts":[[2025,8,13]],"date-time":"2025-08-13T06:17:01Z","timestamp":1755065821000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Prenatal Ultrasound Study of Cerebral Cortical Sulci and Gyri Development in Fetuses With Overgrowth Syndrome and\/or Cerebral Malformations due to Abnormalities in <i>MTOR<\/i> Pathway Genes"],"prefix":"10.1002","volume":"13","author":[{"given":"Hui","family":"Wang","sequence":"first","affiliation":[{"name":"Maternal\u2010Fetal Medicine Center Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University  Shenzhen 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