{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T07:31:14Z","timestamp":1787729474868,"version":"build-2784847793"},"reference-count":6,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,1,29]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_crpm-2024-0048_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Midline defects in the brain may be related to genetic syndromes. Association with facial anomalies and skeletal deformities has been described.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_crpm-2024-0048_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>In the present case, a routine second trimester scan revealed cerebral abnormalities (corpus callosum agenesis, cerebellar cleft due to vermian hypoplasia, ventriculomegaly), suspected cortical developmental disorder, hypertelorism, a hypoplastic nasal bone, a small median cleft lip and palate, abnormal facial profile, as well as syndactyly of the left hand involving the fourth and fifth finger. Genetic testing revealed a normal karyotype. Subsequent trio exome sequencing did not identify any pathogenic variants or variants of unknown significance. The vaginal delivery at term and postnatal adaptation were uneventful. Postnatal neurosonographic imaging and clinical evaluation confirmed the prenatal findings. Both mother and child were discharged in healthy condition with scheduled follow-ups. Differential diagnoses of the present anomalies include Hartsfield-Bixler-Demyer Syndrome, Oro-Facial-Digital-Syndromes, Ectrodactyly Ectodermal Dysplasia Cleft Lip\/Palate Syndrome and Acrocallosal Syndrome.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_crpm-2024-0048_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Invasive diagnostic and genetic testing are recommended when multiple fetal anomalies suggest a potential genetic syndrome. While not all cases reveal an underlying genetic cause, prenatal findings can provide valuable information to help parents and healthcare providers make informed decisions about the continuation of the pregnancy.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/crpm-2024-0048","type":"journal-article","created":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T11:12:47Z","timestamp":1747221167000},"source":"Crossref","is-referenced-by-count":1,"title":["Midline defect with corpus callosum agenesis, vermian hypoplasia and median cleft lip palate"],"prefix":"10.1515","volume":"14","author":[{"given":"Clara","family":"Illi","sequence":"first","affiliation":[{"name":"Department of Obstetrics , Charit\u00e9 University Hospital , Berlin , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josefine Theresia","family":"Koenigbauer","sequence":"additional","affiliation":[{"name":"Department of Obstetrics , Charit\u00e9 University Hospital , Berlin , Germany"},{"name":"Prenatal Diagnosis and Women\u2019s Health Bergmannstra\u00dfe , Berlin , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Weichert","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis and Women\u2019s Health Bergmannstra\u00dfe , Berlin , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2025,5,5]]},"reference":[{"key":"2025122008251825811_j_crpm-2024-0048_ref_001","doi-asserted-by":"crossref","unstructured":"Nicolas, S, Isabelle, M, Nelle, L, Camille, P, Deepthi, CS, Boyan, D, et al.. FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. J Med Genet 2013;50:585. https:\/\/doi.org\/10.1136\/jmedgenet-2013-101603.","DOI":"10.1136\/jmedgenet-2013-101603"},{"key":"2025122008251825811_j_crpm-2024-0048_ref_002","doi-asserted-by":"crossref","unstructured":"Franco, B, Thauvin-Robinet, C. Update on oral-facial-digital syndromes (OFDS). Cilia 2016;5:12. https:\/\/doi.org\/10.1186\/s13630-016-0034-4.","DOI":"10.1186\/s13630-016-0034-4"},{"key":"2025122008251825811_j_crpm-2024-0048_ref_003","doi-asserted-by":"crossref","unstructured":"Koul, M, Dwivedi, R, Upadhyay, V. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome). J Oral Biol Craniofac Res 2014;4:135\u20139. https:\/\/doi.org\/10.1016\/j.jobcr.2014.08.002.","DOI":"10.1016\/j.jobcr.2014.08.002"},{"key":"2025122008251825811_j_crpm-2024-0048_ref_004","doi-asserted-by":"crossref","unstructured":"Putoux, A, Thomas, S, Coene, KL, Davis, EE, Alanay, Y, Ogur, G, et al.. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet 2011;43:601\u20136. https:\/\/doi.org\/10.1038\/ng.826.","DOI":"10.1038\/ng.826"},{"key":"2025122008251825811_j_crpm-2024-0048_ref_005","doi-asserted-by":"crossref","unstructured":"Tsai, P, Shinar, S. Agenesis of the corpus callosum: what to tell expecting parents? Prenat Diagn 2023;43:1527\u201335. https:\/\/doi.org\/10.1002\/pd.6447.","DOI":"10.1002\/pd.6447"},{"key":"2025122008251825811_j_crpm-2024-0048_ref_006","doi-asserted-by":"crossref","unstructured":"D\u2019Antonio, F, Pagani, G, Familiari, A, Khalil, A, Sagies, TL, Malinger, G, et al.. Outcomes associated with isolated agenesis of the corpus callosum: a meta-analysis. Pediatrics 2016;138. https:\/\/doi.org\/10.1542\/peds.2016-0445.","DOI":"10.1542\/peds.2016-0445"}],"container-title":["Case Reports in Perinatal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/crpm-2024-0048\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/crpm-2024-0048\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,20]],"date-time":"2025-12-20T08:25:44Z","timestamp":1766219144000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/crpm-2024-0048\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,1]]},"references-count":6,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,7,9]]},"published-print":{"date-parts":[[2025,1,29]]}},"alternative-id":["10.1515\/crpm-2024-0048"],"URL":"https:\/\/doi.org\/10.1515\/crpm-2024-0048","relation":{},"ISSN":["2192-8959"],"issn-type":[{"value":"2192-8959","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,1]]},"article-number":"20240048"}}