{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T08:17:06Z","timestamp":1790842626048,"version":"4.1.0"},"reference-count":136,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2022,5,29]],"date-time":"2022-05-29T00:00:00Z","timestamp":1653782400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Life"],"abstract":"<jats:p>This paper describes the contemporary state of knowledge regarding processes that regulate normal development of the embryonic\u2013fetal central nervous system (CNS). The processes are described according to the developmental timetable: dorsal induction, ventral induction, neurogenesis, neuronal migration, post-migration neuronal development, and cortical organization. We review the current literature on CNS malformations associated with these regulating processes. We specifically address neural tube defects, holoprosencephaly, malformations of cortical development (including microcephaly, megalencephaly, lissencephaly, cobblestone malformations, gray matter heterotopia, and polymicrogyria), disorders of the corpus callosum, and posterior fossa malformations. Fetal ventriculomegaly, which frequently accompanies these disorders, is also reviewed. Each malformation is described with reference to the etiology, genetic causes, prenatal sonographic imaging, associated anomalies, differential diagnosis, complimentary diagnostic studies, clinical interventions, neurodevelopmental outcome, and life quality.<\/jats:p>","DOI":"10.3390\/life12060809","type":"journal-article","created":{"date-parts":[[2022,5,29]],"date-time":"2022-05-29T08:50:51Z","timestamp":1653814251000},"page":"809","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":76,"title":["Fetal Brain Development: Regulating Processes and Related Malformations"],"prefix":"10.3390","volume":"12","author":[{"given":"Zvi","family":"Leibovitz","sequence":"first","affiliation":[{"name":"Obstetrics-Gynecology Ultrasound Unit, Department of Obstetrics and Gynecology, Fetal Neurology Clinic, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv 5822012, Israel"},{"name":"Obstetrics-Gynecology Ultrasound Unit, Bnai-Zion Medical Center, Rappaport Faculty of Medicine, The Technion, Haifa 31048, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tally","family":"Lerman-Sagie","sequence":"additional","affiliation":[{"name":"Obstetrics-Gynecology Ultrasound Unit, Department of Obstetrics and Gynecology, Fetal Neurology Clinic, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv 5822012, Israel"},{"name":"Pediatric Neurology Unit, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv 5822012, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leila","family":"Haddad","sequence":"additional","affiliation":[{"name":"Obstetrics-Gynecology Ultrasound Unit, Bnai-Zion Medical Center, Rappaport Faculty of Medicine, The Technion, Haifa 31048, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,5,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1002\/uog.23616","article-title":"ISUOG Practice Guidelines (updated), sonographic examination of the fetal central nervous system. Part 2, performance of targeted neurosonography","volume":"57","author":"Paladini","year":"2021","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/B978-0-444-64239-4.00014-X","article-title":"The developing brain by trimester","volume":"Volume 171","author":"Govaert","year":"2020","journal-title":"Handbook of Clinical Neurology"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1016\/j.neuron.2015.12.008","article-title":"The Cellular and Molecular Landscapes of the Developing Human Central Nervous System","volume":"89","author":"Silbereis","year":"2016","journal-title":"Neuron"},{"key":"ref_4","first-page":"203","article-title":"Multisite neural tube closure in humans","volume":"30","year":"1996","journal-title":"Birth Defects Orig. Artic. Ser."},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"ten Donkelaar, H., and Lammens, M. (2006). Overview of the Development of the Human Brain and Spinal Cord. Clinical Neuroembryology, Springer. [1st ed.].","DOI":"10.1007\/3-540-34659-7"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1038\/nature09611","article-title":"Developmental genetics of vertebrate glial-cell specification","volume":"468","author":"Rowitch","year":"2010","journal-title":"Nature"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.yexcr.2013.10.003","article-title":"Cell fate control in the developing central nervous system","volume":"321","author":"Li","year":"2014","journal-title":"Exp. Cell Res."},{"key":"ref_8","first-page":"396","article-title":"Neurogenesis in the embryonic and adult brain: Same regulators, different roles","volume":"8","author":"Guillemot","year":"2014","journal-title":"Front. Cell Neurosci."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1016\/j.stem.2012.05.012","article-title":"Adult neural stem cells bridge their niche","volume":"10","author":"Fuentealba","year":"2012","journal-title":"Cell Stem Cell"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1038\/nrn2252","article-title":"Development of the human cerebral cortex, Boulder Committee revisited","volume":"9","author":"Bystron","year":"2008","journal-title":"Nat. Rev. Neurosci."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1146\/annurev-cellbio-101011-155801","article-title":"The cell biology of neurogenesis, toward an understanding of the development and evolution of the neocortex","volume":"30","author":"Taverna","year":"2014","journal-title":"Annu. Rev. Cell Dev. Biol."},{"key":"ref_12","first-page":"4","article-title":"Time Table of Normal Foetal Brain Development","volume":"21","author":"Linderkamp","year":"2009","journal-title":"Int. J. Prenat. Perinat. Psychol. Med."},{"key":"ref_13","doi-asserted-by":"crossref","unstructured":"O\u2019Rahilly, R., and Muller, F. (2006). The Embryonic Human Brain Atlas of Developmental Stages, John Wiley & Sons. [3rd ed.].","DOI":"10.1002\/0471973084"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1016\/j.pneurobio.2007.07.007","article-title":"Mechanisms of axon degeneration, from development to disease","volume":"83","author":"Saxena","year":"2007","journal-title":"Prog. Neurobiol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/j.tig.2009.09.011","article-title":"Primary microcephaly, do all roads lead to Rome?","volume":"25","author":"Thornton","year":"2009","journal-title":"Trends Genet."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1016\/j.ajhg.2011.04.003","article-title":"Human mutations in NDE1 cause extreme microcephaly with lissencephaly","volume":"88","author":"Alkuraya","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1038\/ng.526","article-title":"Mutations in PNKP cause microcephaly, seizures and defects in DNA repair","volume":"42","author":"Shen","year":"2010","journal-title":"Nat. Genet."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1038\/ng.2007.80","article-title":"Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling","volume":"40","author":"Griffith","year":"2008","journal-title":"Nat. Genet."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1439","DOI":"10.1002\/ajmg.a.32312","article-title":"Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally","volume":"146","author":"Desir","year":"2008","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1016\/j.ajhg.2009.01.017","article-title":"Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly","volume":"84","author":"Kumar","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1038\/ng.683","article-title":"Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture","volume":"42","author":"Yu","year":"2010","journal-title":"Nat. Genet."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/j.neuron.2004.09.023","article-title":"Mitotic spindle regulation by Nde1 controls cerebral cortical size","volume":"44","author":"Feng","year":"2004","journal-title":"J. Neuron"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1348","DOI":"10.1093\/brain\/aws019","article-title":"A developmental and genetic classification for malformations of cortical development, update 2012","volume":"135","author":"Barkovich","year":"2012","journal-title":"Brain"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1097\/NEN.0b013e318274a128","article-title":"Dystroglycan on radial glia end feet is required for pial basement membrane integrity and columnar organization of the developing cerebral cortex","volume":"71","author":"Myshrall","year":"2012","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1007\/s11910-010-0176-5","article-title":"Molecular genetics of neuronal migration disorders","volume":"11","author":"Liu","year":"2011","journal-title":"Curr. Neurol. Neurosci. Rep."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/S0959-4388(98)80007-X","article-title":"New directions for neuronal migration","volume":"8","author":"Pearlman","year":"1998","journal-title":"Curr. Opin. Neurobiol."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"872","DOI":"10.1126\/science.1061891","article-title":"Sorting of striatal and cortical interneurons regulated by semaphorin-neuropilin interactions","volume":"293","author":"Yaron","year":"2001","journal-title":"Science"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1242\/dev.128.3.353","article-title":"Distinct cortical migrations from the medial and lateral ganglionic eminences","volume":"128","author":"Anderson","year":"2001","journal-title":"Development"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"E279","DOI":"10.1097\/AOG.0000000000002412","article-title":"ACOG PRACTICE BULLETIN No. 187, Neural Tube Defects","volume":"130","author":"Trinidad","year":"2017","journal-title":"Obstet. Gynecol."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.spen.2009.06.001","article-title":"Genetic basis of neural tube defects","volume":"16","author":"Bassuk","year":"2009","journal-title":"Semin. Pediatr. Neurol."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1046\/j.1469-0705.1999.13030196.x","article-title":"The \u201cMickey Mouse\u201d sign and the diagnosis of anencephaly in early pregnancy","volume":"13","author":"Chatzipapas","year":"1999","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1046\/j.1469-0705.1997.09010014.x","article-title":"Ultrasound screening for anencephaly at 10\u201314 weeks of gestation","volume":"9","author":"Johnson","year":"1997","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"254","DOI":"10.3171\/PED.2008.2.10.254","article-title":"Clinical predictors of developmental outcome in patients with cephaloceles","volume":"2","author":"Lo","year":"2008","journal-title":"J. Neurosurg. Pediatr."},{"key":"ref_34","first-page":"119","article-title":"Atretic cephalocele","volume":"98","author":"Favoreel","year":"2015","journal-title":"Jbr-Btr"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"B9","DOI":"10.1016\/j.ajog.2020.08.177","article-title":"Posterior Encephalocele","volume":"223","author":"Monteagudo","year":"2020","journal-title":"Am. J. Obstet. Gynecol."},{"key":"ref_36","doi-asserted-by":"crossref","unstructured":"Paladini, D., and Volpe, P. (2007). Ultrasound of Congenital Fetal Anomalies Differential Diagnosis and Prognostic Indicators, Informa. [1st ed.].","DOI":"10.1201\/b13793"},{"key":"ref_37","first-page":"540","article-title":"The child with a cephalocele, etiology.; neuroimaging.; and outcome","volume":"12","author":"Poza","year":"1996","journal-title":"Childs Nerv. Syst."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1067\/j.cpradiol.2012.06.002","article-title":"Congenital spinal cord anomalies, a pictorial review","volume":"42","author":"Gupta","year":"2013","journal-title":"Curr. Probl. Diagn. Radiol."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"S26","DOI":"10.2214\/AJR.07.7141","article-title":"Congenital spine and spinal cord malformations\u2014Pictorial review","volume":"194","author":"Rufener","year":"2010","journal-title":"Am. J. Roentgenol."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1002\/uog.20136","article-title":"Prenatal diagnosis, natural history, postnatal treatment and outcome of 222 cases of spina bifida: Experience of a tertiary center","volume":"53","author":"Masini","year":"2019","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1016\/S0140-6736(86)91610-7","article-title":"Ultrasound Screening for Spina Bifida, Cranial and Cerebellar Signs","volume":"328","author":"Nicolaides","year":"1986","journal-title":"Lancet"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1016\/0002-9378(90)90378-K","article-title":"Evaluation of the lemon and banana signs in one hundred thirty fetuses with open spina bifida","volume":"162","author":"Nicolaides","year":"1990","journal-title":"Am. J. Obstet. Gynecol."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1002\/uog.7329","article-title":"Assessment of intracranial translucency (IT) in the detection of spina bifida at the 11\u201313-week scan","volume":"34","author":"Chaoui","year":"2009","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1002\/uog.8994","article-title":"Retrospective review of diagnostic performance of intracranial translucency in detection of open spina bifida at the 11\u201313-week scan","volume":"38","author":"Fong","year":"2011","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1002\/uog.964","article-title":"Chromosomal abnormalities in fetuses with open neural tube defects, prenatal identification with ultrasound","volume":"23","author":"Sepulveda","year":"2004","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1002\/(SICI)1096-8628(19960111)61:2<171::AID-AJMG14>3.0.CO;2-R","article-title":"Aneuploidy among prenatally detected neural tube defects","volume":"61","author":"Hume","year":"1996","journal-title":"Am. J. Med. Genet."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1002\/pd.5829","article-title":"Chromosomal microarray analysis in fetuses with central nervous system anomalies: An 8-year long observational study from a tertiary care university hospital","volume":"41","author":"Santirocco","year":"2021","journal-title":"Prenat. Diagn."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S1028-4559(08)60048-0","article-title":"Syndromes, disorders and maternal risk factors associated with neural tube defects (I)","volume":"47","author":"Chen","year":"2008","journal-title":"Taiwan J. Obstet. Gynecol."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/S1028-4559(08)60049-2","article-title":"Syndromes, disorders and maternal risk factors associated with neural tube defects (II)","volume":"47","author":"Chen","year":"2008","journal-title":"Taiwan J. Obstet. Gynecol."},{"key":"ref_50","doi-asserted-by":"crossref","unstructured":"MRC Vitamin Study Research Group (1992). Prevention of neural tube defects: Results of the Medical Research Council Vitamin study. Obstet. Gynecol. Surv., 47, 21\u201323.","DOI":"10.1097\/00006254-199201000-00007"},{"key":"ref_51","first-page":"1","article-title":"Spina bifida: Pathogenesis, mechanisms and genes in mice and humans","volume":"2017","author":"Marwan","year":"2017","journal-title":"Scientifica"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"R113","DOI":"10.1093\/hmg\/ddp347","article-title":"Genetics of human neural tube defects","volume":"18","author":"Greene","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"1675","DOI":"10.1016\/S0140-6736(98)00070-1","article-title":"Successful fetal surgery for spina bifida","volume":"352","author":"Adzick","year":"1998","journal-title":"Lancet"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1002\/uog.20188","article-title":"Neurodevelopmental outcome of children with spina bifida aperta repaired prenatally vs. postnatally, systematic review and meta-analysis","volume":"53","author":"Inversetti","year":"2019","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1002\/bdra.23086","article-title":"Pregnancy termination following prenatal diagnosis of anencephaly or spina bifida, a systematic review of the literature","volume":"94","author":"Johnson","year":"2012","journal-title":"Birth Defects Res. A Clin. Mol. Teratol."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1016\/j.bpobgyn.2013.10.006","article-title":"Diagnosis of spina bifida on ultrasound, always termination?","volume":"28","author":"Trudell","year":"2014","journal-title":"Best Pract. Res. Clin. Obstet. Gynaecol."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1002\/pd.2208","article-title":"Disorders of prosencephalic development","volume":"29","author":"Volpe","year":"2009","journal-title":"Prenat. Diagn."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1177\/088307389400900416","article-title":"Atelencephalic aprosencephaly","volume":"9","author":"Harris","year":"1994","journal-title":"J. Child. Neurol."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1148\/rg.351140040","article-title":"Holoprosencephaly: A survey of the entity, with embryology and fetal imaging","volume":"35","author":"Winter","year":"2015","journal-title":"Radiographics"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1542\/peds.34.2.256","article-title":"The face predicts the brain: Diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly)","volume":"34","author":"DeMyer","year":"1964","journal-title":"Pediatrics"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1002\/ajmg.c.30249","article-title":"Neuropathology of holoprosencephaly","volume":"154","author":"Marcorelles","year":"2010","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1046\/j.1469-0705.1994.04010065.x","article-title":"Intraventricular fused fornices: A specific sign of fetal lobar holoprosencephaly","volume":"4","author":"Pilu","year":"1994","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1046\/j.1469-0705.2002.00729.x","article-title":"A new clue to the prenatal diagnosis of lobar holoprosencephaly: The abnormal pathway of the anterior cerebral artery crawling under the skull","volume":"19","author":"Bernard","year":"2002","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_64","first-page":"431","article-title":"Middle interhemispheric fusion: An unusual variant of holoprosencephaly","volume":"14","author":"Barkovich","year":"1993","journal-title":"AJNR Am. J. Neuroradiol."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"1860","DOI":"10.1212\/01.WNL.0000037483.31989.B9","article-title":"Middle interhemispheric variant of holoprosencephaly: A distinct cliniconeuroradiologic subtype","volume":"59","author":"Lewis","year":"2002","journal-title":"Neurology"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1002\/ajmg.c.30238","article-title":"Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation","volume":"154","author":"Hahn","year":"2010","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"761","DOI":"10.7863\/jum.2004.23.6.761","article-title":"First-trimester sonographic diagnosis of holoprosencephaly: Value of the \u201cbutterfly\u201d sign","volume":"23","author":"Sepulveda","year":"2004","journal-title":"J. Ultrasound Med."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1002\/ajmg.c.30254","article-title":"Management of children with holoprosencephaly","volume":"154","author":"Levey","year":"2010","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1097\/MOP.0b013e32833f56d5","article-title":"Holoprosencephaly: Recommendations for diagnosis and management","volume":"22","author":"Kauvar","year":"2010","journal-title":"Curr. Opin. Pediatr."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1038\/nrn2107","article-title":"Agenesis of the corpus callosum: Genetics, developmental and functional aspects of connectivity","volume":"8","author":"Paul","year":"2007","journal-title":"Nat. Rev. Neurosci."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"1579","DOI":"10.1093\/brain\/awt358","article-title":"Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes","volume":"137","author":"Edwards","year":"2014","journal-title":"Brain"},{"key":"ref_72","first-page":"423","article-title":"Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination","volume":"178","author":"Wong","year":"2018","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"1239","DOI":"10.1002\/pd.5735","article-title":"The early pattern of human corpus callosum development: A transvaginal 3D neurosonographic study","volume":"40","author":"Birnbaum","year":"2020","journal-title":"Prenat. Diagn."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1016\/j.ejpn.2018.08.007","article-title":"Fetal midline anomalies: Diagnosis and counselling Part 1: Corpus callosum anomalies","volume":"22","author":"Leombroni","year":"2018","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1002\/uog.22102","article-title":"Improved neurodevelopmental prognostication in isolated corpus callosal agenesis, fetal magnetic resonance imaging-based scoring system","volume":"58","author":"Diogo","year":"2021","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/j.ejpn.2017.08.003","article-title":"Outcome of isolated agenesis of the corpus callosum: A population-based prospective study","volume":"22","author":"Rolland","year":"2018","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1136\/jmedgenet-2012-101016","article-title":"Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome","volume":"49","author":"Putoux","year":"2012","journal-title":"J. Med. Genet."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1038\/ejhg.2008.10","article-title":"Smith\u2013Lemli\u2013Opitz syndrome: Pathogenesis, diagnosis and management","volume":"16","author":"Porter","year":"2008","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1212\/WNL.92.15_supplement.P1.6-045","article-title":"FOXG1 syndrome: A rare disorder often misdiagnosed as cerebral palsy","volume":"92","author":"Lia","year":"2019","journal-title":"Neurology"},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1155\/2013\/265619","article-title":"Congenital and acquired abnormalities of the corpus callosum: A pictorial essay","volume":"2013","author":"Krupa","year":"2013","journal-title":"Biomed. Res. Int."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1002\/uog.17400","article-title":"Prenatal diagnosis of pericallosal curvilinear lipoma: Specific imaging pattern and diagnostic pitfalls","volume":"51","author":"Atallah","year":"2018","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_82","first-page":"5147","article-title":"Diagnostic approach to the alterations of the corpus callosum: State of the art","volume":"30","author":"Restrepo","year":"2019","journal-title":"Rev. Colomb. Radiol."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1002\/uog.21991","article-title":"ISUOG Practice Guidelines: Role of ultrasound in congenital infection","volume":"56","author":"Khalil","year":"2020","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1002\/uog.22145","article-title":"ISUOG Practice Guidelines (updated): Sonographic examination of the fetal central nervous system. Part 1: Performance of screening examination and indications for targeted neurosonography","volume":"56","author":"Malinger","year":"2020","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1002\/uog.17409","article-title":"Cavum septi pellucidi (CSP) ratio: A marker for partial agenesis of the fetal corpus callosum","volume":"50","author":"Karl","year":"2017","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1002\/uog.14776","article-title":"Abnormal shape of the cavum septi pellucidi: An indirect sign of partial agenesis of the corpus callosum","volume":"46","author":"Shen","year":"2015","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"257","DOI":"10.3174\/ajnr.A1331","article-title":"Agenesis of the corpus callosum: An MR imaging analysis of associated abnormalities in the fetus","volume":"30","author":"Tang","year":"2009","journal-title":"AJNR Am. J. Neuroradiol."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1016\/j.clp.2009.06.004","article-title":"Primary disorders of metabolism and disturbed fetal brain development","volume":"36","author":"Prasad","year":"2009","journal-title":"Clin. Perinatol."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"e20160445","DOI":"10.1542\/peds.2016-0445","article-title":"Outcomes associated with isolated agenesis of the corpus callosum: A meta-analysis","volume":"138","author":"Pagani","year":"2016","journal-title":"Pediatrics"},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.15252\/embj.201593701","article-title":"Cerebral cortex expansion and folding: What have we learned?","volume":"35","year":"2016","journal-title":"EMBO J."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1002\/ana.24793","article-title":"Malformations of cortical development","volume":"80","author":"Desikan","year":"2016","journal-title":"Ann. Neurol."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"576","DOI":"10.3389\/fncel.2019.00576","article-title":"Cortical malformations: Lessons in human brain development","volume":"13","author":"Subramanian","year":"2020","journal-title":"Front. Cell Neurosci."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1016\/S1474-4422(14)70040-7","article-title":"Malformations of cortical development: Clinical features and genetic causes","volume":"13","author":"Guerrini","year":"2014","journal-title":"Lancet Neurol."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1002\/wdev.89","article-title":"Genetic causes of microcephaly and lessons for neuronal development","volume":"2","author":"Gilmore","year":"2013","journal-title":"Wiley Interdiscip. Rev. Dev. Biol."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1016\/j.ejpn.2018.06.002","article-title":"Diagnostic approach to fetal microcephaly","volume":"22","author":"Leibovitz","year":"2018","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1212\/WNL.0b013e3181b783f7","article-title":"Quality standards subcommittee of the American Academy of Neurology and the practice committee of the Child Neurology Society. Practice parameter: Evaluation of the child with microcephaly (an evidence-based review), report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society","volume":"73","author":"Ashwal","year":"2009","journal-title":"Neurology"},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1016\/0002-9378(84)90027-9","article-title":"The diagnosis of fetal microcephaly","volume":"149","author":"Chervenak","year":"1984","journal-title":"Am. J. Obstet. Gynecol."},{"key":"ref_98","doi-asserted-by":"crossref","unstructured":"Society for Maternal-Fetal Medicine Publications Committee (2016). Ultrasound screening for fetal microcephaly following Zika virus exposure. Am. J. Obstet. Gynecol., 214, B2\u2013B4.","DOI":"10.1016\/j.ajog.2016.02.043"},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1002\/uog.15801","article-title":"Prediction of microcephaly at birth using three reference ranges for fetal head circumference: Can we improve prenatal diagnosis?","volume":"47","author":"Leibovitz","year":"2016","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1002\/uog.15886","article-title":"Application of a novel prenatal vertical cranial biometric measurement can improve accuracy of microcephaly diagnosis in utero","volume":"47","author":"Leibovitz","year":"2016","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1111\/j.1469-8749.1991.tb14813.x","article-title":"The Predictive Value of Microcephaly During the First Year of Life for Mental Retardation At Seven Years","volume":"33","author":"Dolk","year":"1991","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1002\/ajmg.a.36836","article-title":"PIK3CA-related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis and evaluation","volume":"167","author":"Rios","year":"2015","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"e6814","DOI":"10.1097\/MD.0000000000006814","article-title":"A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment","volume":"96","author":"Pavone","year":"2017","journal-title":"Medicine"},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"2874","DOI":"10.1093\/brain\/awaa174","article-title":"Definitions and classification of malformations of cortical development, practical guidelines","volume":"143","author":"Severino","year":"2020","journal-title":"Brain"},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"673","DOI":"10.21037\/qims.2018.08.08","article-title":"Comprehensive genotype-phenotype correlation in lissencephaly","volume":"8","author":"Tan","year":"2018","journal-title":"Quant. Imag. Med. Surg."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"R89","DOI":"10.1093\/hmg\/ddg086","article-title":"Lissencephaly and the molecular basis of neuronal migration","volume":"12","author":"Kato","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1038\/sj.jp.7211920","article-title":"Miller-Dieker syndrome, type 1 lissencephaly","volume":"28","author":"Herman","year":"2008","journal-title":"J. Perinatol."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1136\/jmg.33.4.319","article-title":"Syndromes with lissencephaly","volume":"33","author":"Pilz","year":"1996","journal-title":"J. Med. Genet."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.ejpn.2021.08.001","article-title":"A practical approach to prenatal diagnosis of malformations of cortical development","volume":"34","author":"Pogledic","year":"2021","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s40478-014-0080-3","article-title":"Polymicrogyria: Pathology, fetal origins and mechanisms","volume":"2","author":"Squier","year":"2014","journal-title":"Acta Neuropathol. Commun."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"1415","DOI":"10.1093\/brain\/awq078","article-title":"Clinical and imaging heterogeneity of polymicrogyria: A study of 328 patients","volume":"133","author":"Leventer","year":"2010","journal-title":"Brain"},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1097\/NRL.0b013e31816606b9","article-title":"Malformations of cortical development","volume":"14","author":"Pang","year":"2008","journal-title":"Neurologist"},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"7","DOI":"10.3389\/fnana.2012.00007","article-title":"Developmental disorders of the midbrain and hindbrain","volume":"6","author":"Barkovich","year":"2012","journal-title":"Front. Neuroanat."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1016\/j.nic.2019.03.008","article-title":"Posterior Fossa Malformations","volume":"29","author":"Severino","year":"2019","journal-title":"Neuroimaging Clin. N. Am."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"1483","DOI":"10.1177\/0883073811420148","article-title":"The fetal cerebellum: Development and common malformations","volume":"26","author":"Garel","year":"2011","journal-title":"J. Child Neurol."},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1007\/s00247-004-1248-y","article-title":"Practical approach to prenatal posterior fossa abnormalities using MRI","volume":"34","author":"Guibaud","year":"2004","journal-title":"Pediatr. Radiol."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"1038","DOI":"10.1007\/s00247-010-1617-7","article-title":"Posterior fossa malformations, main features and limits in prenatal diagnosis","volume":"40","author":"Garel","year":"2010","journal-title":"Pediatr. Radiol."},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1002\/pd.2196","article-title":"The fetal cerebellum. Pitfalls in diagnosis and management","volume":"29","author":"Malinger","year":"2009","journal-title":"Prenat. Diagn."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1002\/uog.13312","article-title":"Assessment of fetal midbrain and hindbrain in mid-sagittal cranial plane by three-dimensional multiplanar sonography. Part 2: Application of nomograms to fetuses with posterior fossa malformations","volume":"44","author":"Leibovitz","year":"2014","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"690","DOI":"10.1002\/uog.14900","article-title":"Systematic review and meta-analysis of isolated posterior fossa malformations on prenatal ultrasound imaging (part 1): Nomenclature, diagnostic accuracy and associated anomalies","volume":"47","author":"Khalil","year":"2016","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1002\/uog.15755","article-title":"Systematic review and meta-analysis of isolated posterior fossa malformations on prenatal imaging (part 2): Neurodevelopmental outcome","volume":"48","author":"Khalil","year":"2016","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"632","DOI":"10.1002\/uog.11101","article-title":"Brainstem\u2013vermis and brainstem\u2013tentorium angles allow accurate categorization of fetal upward rotation of cerebellar vermis","volume":"39","author":"Volpe","year":"2012","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1002\/uog.19034","article-title":"Fourth ventricle index: Sonographic marker for severe fetal vermian dysgenesis\/agenesis","volume":"53","author":"Haratz","year":"2019","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1002\/uog.23660","article-title":"Prenatal diagnosis of rhombencephalosynapsis: Neuroimaging features and severity of vermian anomaly","volume":"58","year":"2021","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"39","DOI":"10.7863\/jum.2003.22.1.39","article-title":"Fetal lateral ventricular width: What should be its upper limit? A prospective cohort study and reanalysis of the current and previous data","volume":"22","author":"Almog","year":"2003","journal-title":"J. Ultrasound Med."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1002\/uog.6456","article-title":"Fetal cerebral ventricular measurement and ventriculomegaly, time for procedure standardization","volume":"34","author":"Guibaud","year":"2009","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"B2","DOI":"10.1016\/j.ajog.2018.04.039","article-title":"Mild fetal ventriculomegaly: Diagnosis, evaluation and management","volume":"219","author":"Fox","year":"2018","journal-title":"Am. J. Obstet. Gynecol."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1002\/uog.4026","article-title":"Reference ranges for fetal ventricular width: A non-normal approach","volume":"30","author":"Salomon","year":"2007","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1002\/pd.2195","article-title":"The significance of fetal ventriculomegaly: Etiology, short-and long-term outcomes","volume":"29","author":"Gaglioti","year":"2009","journal-title":"Prenat. Diagn."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1002\/uog.13364","article-title":"Neurodevelopmental outcome in isolated mild fetal ventriculomegaly, systematic review and meta-analysis","volume":"44","author":"Pagani","year":"2014","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1002\/pd.4310","article-title":"Coronal approach for measuring both fetal lateral ventricles: Is there an advantage over the axial view?","volume":"34","author":"Katorza","year":"2014","journal-title":"Prenat. Diagn."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1002\/uog.7307","article-title":"Counseling in isolated mild fetal ventriculomegaly","volume":"34","author":"Melchiorre","year":"2009","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/uog.14687","article-title":"Etiological diagnostic tools to elucidate \u2018isolated\u2019 ventriculomegaly","volume":"46","author":"Guibaud","year":"2015","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"618236","DOI":"10.3389\/fped.2021.618236","article-title":"Consensus approach for standardizing the screening and classification of preterm brain injury diagnosed with cranial ultrasound: A Canadian perspective","volume":"9","author":"Mohammad","year":"2021","journal-title":"Front. Pediatr."},{"key":"ref_135","first-page":"576","article-title":"Application of chromosome microarray analysis for the delineation of pathogenesis for fetal ventriculomegaly","volume":"34","author":"Li","year":"2017","journal-title":"Chin. J. Med. Genet."},{"key":"ref_136","first-page":"789","article-title":"Chromosomal microarray analysis for lateral ventriculomegaly in fetus","volume":"32","author":"Zhang","year":"2015","journal-title":"Chin. J. Med. Genet."}],"container-title":["Life"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-1729\/12\/6\/809\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T23:20:59Z","timestamp":1760138459000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-1729\/12\/6\/809"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5,29]]},"references-count":136,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2022,6]]}},"alternative-id":["life12060809"],"URL":"https:\/\/doi.org\/10.3390\/life12060809","relation":{},"ISSN":["2075-1729"],"issn-type":[{"value":"2075-1729","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,5,29]]}}}