{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,3]],"date-time":"2026-01-03T15:08:49Z","timestamp":1767452929016,"version":"build-2065373602"},"reference-count":74,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2024,6,28]],"date-time":"2024-06-28T00:00:00Z","timestamp":1719532800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Introduction: The corpus callosum is one of the five main cerebral commissures. It is key to combining sensory and motor functions. Its structure can be pathological (dysgenesis) or completely absent (agenesis). The corpus callosum dys- or agenesis is a rare disease (1:4000 live births), but it can have serious mental effects. Methods: In our study, we processed the data of 64 pregnant women. They attended a prenatal diagnostic center and genetic counseling from 2005 to 2019 at the Department of Obstetrics and Gynecology at Semmelweis University. Results: The pregnancies had the following outcomes: 52 ended in delivery, 1 in spontaneous abortion, and 11 in termination of pregnancy (TOP) cases (n = 64). The average time of detection with imaging tests was 25.24 gestational weeks. In 16 cases, prenatal magnetic resonance imaging (MRI) was performed. If the abnormality was detected before the 20th week, a genetic test was performed on an amniotic fluid sample obtained from a genetic amniocentesis. Karyotyping and cytogenetic tests were performed in 15 of the investigated cases. Karyotyping gave normal results in three cases (46,XX or XY). In one of these cases, postnatally chromosomal microarray (CMA) was later performed, which confirmed Aicardi syndrome (3q21.3\u201321.1 microdeletion). In one case, postnatally, the test found Wiedemann\u2013Rautenstrauch syndrome. In other cases, it found X ring, Di George syndrome, 46,XY,del(13q)(q13q22) and 46,XX,del(5p)(p13) (Cri-du-chat syndrome). Edwards syndrome was diagnosed in six cases, and Patau syndrome in one case. Conclusions: We found that corpus callosum abnormalities are often linked to chromosomal problems. We recommend that a cytogenetic test be performed in all cases to rule out inherited diseases. Also, the long-term outcome does not just depend on the disease\u2019s severity and the associated other conditions, and hence proper follow-up and early development are also key. For this reason, close teamwork between neonatology, developmental neurology, and pediatric surgery is vital.<\/jats:p>","DOI":"10.3390\/children11070797","type":"journal-article","created":{"date-parts":[[2024,7,3]],"date-time":"2024-07-03T04:23:43Z","timestamp":1719980623000},"page":"797","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Prenatal and Postnatal Diagnosis and Genetic Background of Corpus Callosum Malformations and Neonatal Follow-Up"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6647-014X","authenticated-orcid":false,"given":"Vir\u00e1g","family":"Bartek","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Istv\u00e1n","family":"Szab\u00f3","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-9671-2903","authenticated-orcid":false,"given":"\u00c1gnes","family":"Harmath","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00e1bor","family":"Rudas","sequence":"additional","affiliation":[{"name":"Heim P\u00e1l National Pediatric Institute, 1089 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tidhar","family":"Steiner","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Attila","family":"Fintha","sequence":"additional","affiliation":[{"name":"Department of Pathology and Experimental Cancer Research, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N\u00e1ndor","family":"\u00c1cs","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6826-7751","authenticated-orcid":false,"given":"Art\u00far","family":"Beke","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,6,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1007\/s00117-018-0388-2","article-title":"Agenesis of the corpus callosum","volume":"58","author":"Lieb","year":"2018","journal-title":"Radiologe"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1002\/ajmg.c.31405","article-title":"Agenesis of the corpus callosum: A clinical approach to diagnosis","volume":"166","author":"Palmer","year":"2014","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.seizure.2016.02.012","article-title":"Corpus callosum and epilepsies","volume":"37","author":"Unterberger","year":"2016","journal-title":"Seizure"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1016\/j.braindev.2003.11.011","article-title":"Aicardi syndrome","volume":"27","author":"Aicardi","year":"2005","journal-title":"Brain Dev."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1136\/jcp.2005.026047","article-title":"Embryo and Fetal Pathology. Color Atlas with Ultrasound Correlation","volume":"58","author":"Wainwright","year":"2005","journal-title":"J. Clin. Pathol."},{"key":"ref_6","unstructured":"(2022, June 17). McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD), Online Mendelian Inheritance in Man, OMIM\u00ae. Available online: https:\/\/omim.org\/."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1177\/08830738211016253","article-title":"Magnetic Resonance Imaging (MRI) Diagnosis of Fetal Corpus Callosum Abnormalities and Follow-up Analysis","volume":"36","author":"Li","year":"2021","journal-title":"J. Child Neurol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1186\/s43055-020-00182-6","article-title":"Beyond fetal magnetic resonance diagnosis of corpus callosum agenesis","volume":"51","author":"Ibrahim","year":"2020","journal-title":"Egypt. J. Radiol. Nucl. Med."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1002\/uog.12315","article-title":"Counseling in fetal medicine: Agenesis of the corpus callosum","volume":"40","author":"Santo","year":"2012","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"2662","DOI":"10.1172\/JCI43639","article-title":"Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics","volume":"121","author":"Dafinger","year":"2011","journal-title":"J. Clin. Investig."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1136\/jmg.39.11.804","article-title":"De novo GLI3 mutation in acrocallosal syndrome: Broadening the phenotypic spectrum of GLI3 defects and overlap with murine models","volume":"39","author":"Elson","year":"2002","journal-title":"J. Med. Genet."},{"key":"ref_12","first-page":"403","article-title":"Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene","volume":"16","author":"Arnaud","year":"2005","journal-title":"Genet. Couns."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1002\/ajmg.a.36248","article-title":"TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia","volume":"164","author":"Alanay","year":"2014","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1002\/ajmg.1320240410","article-title":"SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma","volume":"24","author":"Parry","year":"1986","journal-title":"Am. J. Med. Genet."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1001\/archpedi.1978.02120320027005","article-title":"The Coffin-Siris syndrome: Five new cases including two siblings","volume":"132","author":"Carey","year":"1978","journal-title":"Am. J. Dis. Child."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"4011","DOI":"10.1038\/ncomms5011","article-title":"De novo SOX11 mutations cause Coffin-Siris syndrome","volume":"5","author":"Tsurusaki","year":"2014","journal-title":"Nat. Commun."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1016\/j.ajhg.2019.02.001","article-title":"A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI\/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies","volume":"104","author":"Nixon","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1038\/ng.2219","article-title":"Mutations affecting components of the SWI\/SNF complex cause Coffin-Siris syndrome","volume":"44","author":"Tsurusaki","year":"2012","journal-title":"Nat. Genet."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1016\/j.ajhg.2018.11.007","article-title":"Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay","volume":"104","author":"Machol","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.1136\/jmedgenet-2021-108375","article-title":"Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome","volume":"59","author":"Angelozzi","year":"2022","journal-title":"J. Med. Genet."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1007\/s10048-015-0454-0","article-title":"Mutations in ARID2 are associated with intellectual disabilities","volume":"16","author":"Shang","year":"2015","journal-title":"Neurogenetics"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1016\/j.ajhg.2018.01.014","article-title":"Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome","volume":"102","author":"Vasileiou","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1016\/j.ajhg.2008.01.013","article-title":"SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome","volume":"82","author":"Gilfillan","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1542\/peds.68.2.235","article-title":"New syndrome in three affected siblings","volume":"68","author":"Crane","year":"1981","journal-title":"Pediatrics"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1111\/j.1399-0004.1982.tb01431.x","article-title":"Individualization of a syndrome with mental deficiency, macrocranium, peculiar facies, and cardiac and skeletal anomalies","volume":"22","year":"1982","journal-title":"Clin. Genet."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1002\/ajmg.1320560321","article-title":"Multiple congenital malformations in two sibs reminiscent of hydrolethalus and pseudotrisomy 13 syndromes","volume":"56","author":"Dincsoy","year":"1995","journal-title":"Am. J. Med. Genet."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"E618","DOI":"10.1002\/humu.20992","article-title":"PORCN mutations in focal dermal hypoplasia: Coping with lethality","volume":"30","author":"Bornholdt","year":"2009","journal-title":"Hum. Mutat."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/j.ajhg.2014.07.008","article-title":"Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis","volume":"95","author":"Smith","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1016\/S0022-3476(63)80233-4","article-title":"Oculoauriculovertebral dysplasia","volume":"63","author":"Gorlin","year":"1963","journal-title":"J. Pediatr."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1101\/gr.196048.115","article-title":"Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network","volume":"26","author":"Chassaing","year":"2016","journal-title":"Genome Res."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1475","DOI":"10.1093\/hmg\/ddi157","article-title":"Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1","volume":"14","author":"Mee","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1002\/ajmg.1320410407","article-title":"Apparently new MCA\/MR syndrome in sibs with cleft lip and palate and other facial, eye, heart, and intestinal anomalies","volume":"41","author":"Kapur","year":"1991","journal-title":"Am. J. Med. Genet."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1002\/ana.24551","article-title":"Leigh syndrome: One disorder, more than 75 monogenic causes","volume":"79","author":"Lake","year":"2016","journal-title":"Ann. Neurol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1016\/S0022-3476(69)80044-2","article-title":"Leprechaunism (Donohue\u2019s syndrome): A case report","volume":"74","author":"Summitt","year":"1969","journal-title":"J. Pediatr."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1002\/ajmg.1320170124","article-title":"A form of X-linked mental retardation with marfanoid habitus","volume":"17","author":"Lujan","year":"1984","journal-title":"Am. J. Med. Genet."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1038\/pr.2015.135","article-title":"Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: One gene, two phenotypes","volume":"78","author":"Martinez","year":"2015","journal-title":"Pediatr. Res."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"2524","DOI":"10.1093\/hmg\/ddr151","article-title":"B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis","volume":"20","author":"Hopp","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1111\/cge.13623","article-title":"Meckel syndrome: Clinical and mutation profile in six fetuses","volume":"96","author":"Radhakrishnan","year":"2019","journal-title":"Clin. Genet."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1361","DOI":"10.1016\/j.ajhg.2008.05.004","article-title":"Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle","volume":"82","author":"Tallila","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1002\/humu.20614","article-title":"Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome","volume":"29","author":"Frank","year":"2008","journal-title":"Hum. Mutat."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1002\/ajmg.1320180415","article-title":"The Meckel syndrome in Finland: Epidemiologic and genetic aspects","volume":"18","author":"Salonen","year":"1984","journal-title":"Am. J. Med. Genet."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1038\/ng2039","article-title":"The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome","volume":"39","author":"Delous","year":"2007","journal-title":"Nat. Genet."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1002\/humu.21507","article-title":"A TCTN2 mutation defines a novel Meckel Gruber syndrome locus","volume":"32","author":"Shaheen","year":"2011","journal-title":"Hum. Mutat."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1007\/s00439-007-0341-3","article-title":"Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3","volume":"121","author":"Consugar","year":"2007","journal-title":"Hum. Genet."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1038\/ncb3273","article-title":"TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome","volume":"18","author":"Lambacher","year":"2016","journal-title":"Nat. Cell Biol."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1038\/ng.594","article-title":"Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes","volume":"42","author":"Valente","year":"2010","journal-title":"Nat. Genet."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1136\/jmedgenet-2012-101431","article-title":"Mutations in TMEM231 cause Meckel-Gruber syndrome","volume":"50","author":"Shaheen","year":"2013","journal-title":"J. Med. Genet."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1016\/j.ajhg.2014.07.012","article-title":"Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway","volume":"95","author":"Schanze","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1001\/archpedi.1963.02080040590010","article-title":"Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome","volume":"105","author":"Rubinstein","year":"1963","journal-title":"Am. J. Dis. Child."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"1385","DOI":"10.1093\/hmg\/9.9.1385","article-title":"Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome","volume":"9","author":"Yu","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1007\/BF03047378","article-title":"Lactic acidaemia","volume":"7","author":"Robinson","year":"1984","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"S339","DOI":"10.1007\/s10545-009-1343-1","article-title":"PDH E1\u03b2 deficiency with novel mutations in two patients with Leigh syndrome","volume":"32","author":"Quintana","year":"2009","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1023\/A:1005351012066","article-title":"Pyruvate dehydrogenase complex deficiency and absence of subunit X","volume":"21","author":"Lissens","year":"1998","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1055\/s-0038-1651519","article-title":"B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker-Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss","volume":"49","author":"Ismayl","year":"2018","journal-title":"Neuropediatrics"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"1746","DOI":"10.1093\/hmg\/ddt021","article-title":"Missense mutations in \u03b2-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome","volume":"22","author":"Buysse","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1007\/s10048-013-0374-9","article-title":"Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy","volume":"14","author":"Geis","year":"2013","journal-title":"Neurogenetics"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1212\/WNL.56.8.1059","article-title":"Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease","volume":"56","author":"Cormand","year":"2001","journal-title":"Neurology"},{"key":"ref_58","first-page":"275","article-title":"Hyperekplexia in a neonate: A novel finding in Fukuyama type congenital muscular dystrophy","volume":"20","author":"Tunc","year":"2009","journal-title":"Genet. Couns."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/S0887-8994(97)00137-9","article-title":"Walker-Warburg syndrome: Neurologic features and muscle membrane structure","volume":"18","author":"Kanoff","year":"1998","journal-title":"Pediatr. Neurol."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1136\/jmg.2005.031963","article-title":"POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome","volume":"42","author":"Janssen","year":"2005","journal-title":"J. Med. Genet."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"5781","DOI":"10.1093\/hmg\/ddu296","article-title":"POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations","volume":"23","author":"Balasubramanian","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1002\/(SICI)1096-8628(19961202)66:1<113::AID-AJMG29>3.0.CO;2-U","article-title":"From Pitt-Rogers-Danks syndrome to Wolf-Hirschhorn syndrome and back?","volume":"66","author":"Zollino","year":"1996","journal-title":"Am. J. Med. Genet."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1093\/hmg\/ddp563","article-title":"A Drosophila mutant of LETM1, a candidate gene for seizures in Wolf-Hirschhorn syndrome","volume":"19","author":"McQuibban","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1002\/pd.4381","article-title":"Corpus callosum differences assessed by fetal MRI in late-onset intrauterine growth restriction and its association with neurobehavior","volume":"34","author":"Figueras","year":"2014","journal-title":"Prenat. Diagn."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"2228454","DOI":"10.1080\/14767058.2023.2228454","article-title":"Prenatal ultrasound for the diagnosis of the agenesis of corpus callosum: A meta-analysis","volume":"36","author":"Zhang","year":"2023","journal-title":"J. Matern. Fetal Neonatal Med."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.pediatrneurol.2022.07.007","article-title":"Outcome of Agenesis of the Corpus Callosum Diagnosed by Fetal MRI","volume":"135","author":"Shwe","year":"2022","journal-title":"Pediatr. Neurol."},{"key":"ref_67","first-page":"158","article-title":"Two cases of del(13q)-retinoblastoma and two cases of partial trisomy due to a familial insertion","volume":"26","author":"Turleau","year":"1983","journal-title":"Ann. Genet."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1186\/1750-1172-7-81","article-title":"The trisomy 18 syndrome","volume":"7","author":"Cereda","year":"2012","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_69","first-page":"245","article-title":"Ultrasound features in trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) in a consecutive series of 47 cases","volume":"6","author":"Kroes","year":"2014","journal-title":"Facts Views Vis. ObGyn"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1177\/1971400916689575","article-title":"Neuroradiological findings of trisomy 13 in a rare long-term survivor","volume":"31","author":"Goff","year":"2018","journal-title":"Neuroradiol. J."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"1527","DOI":"10.1002\/pd.6447","article-title":"Agenesis of the corpus callosum: What to tell expecting parents?","volume":"43","author":"Tsai","year":"2023","journal-title":"Prenat. Diagn."},{"key":"ref_72","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_73","first-page":"221","article-title":"Corpus callosum signal intensity in patients with bipolar and unipolar disorder","volume":"75","author":"Brambilla","year":"2004","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_74","first-page":"5925191","article-title":"Neuropsychiatric Manifestations of Partial Agenesis of the Corpus Callosum: A Case Report and Literature Review","volume":"2019","author":"Popoola","year":"2019","journal-title":"Case Rep. Psychiatry"}],"container-title":["Children"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2227-9067\/11\/7\/797\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T15:07:25Z","timestamp":1760108845000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2227-9067\/11\/7\/797"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,28]]},"references-count":74,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2024,7]]}},"alternative-id":["children11070797"],"URL":"https:\/\/doi.org\/10.3390\/children11070797","relation":{},"ISSN":["2227-9067"],"issn-type":[{"type":"electronic","value":"2227-9067"}],"subject":[],"published":{"date-parts":[[2024,6,28]]}}}