{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,16]],"date-time":"2026-08-16T08:25:15Z","timestamp":1786868715844,"version":"build-2736575974"},"reference-count":36,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T00:00:00Z","timestamp":1786579200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"abstract":"<jats:p>\n                    The LAMB1 gene encodes the laminin \u03b21 chain, an essential component of the pial basement membrane required for neural morphogenesis. While biallelic\n                    <jats:italic toggle=\"yes\">LAMB1<\/jats:italic>\n                    mutations typically result in cobblestone lissencephaly and brainstem abnormalities, we report an extreme, lethal syndromic phenotype that significantly expands the gene\u2019s known clinical spectrum. Through genomic sequencing of a 36-week stillborn male fetus from consanguineous parents, we identified a novel homozygous frameshift variant in\n                    <jats:italic toggle=\"yes\">LAMB1<\/jats:italic>\n                    (NM_002291.3:c.3330dup, p.Gly1111Argfs*23). This fetus exhibited severe growth restriction and a massive occipital meningoencephalocele, alongside pansutural craniosynostosis and an underdeveloped cranial base. Multi-system anomalies included gallbladder agenesis and abnormal lung lobation, alongside secondary endocrine failure and placental vascular defects. This report includes a systematic review of 23 confirmed cases, proposing a 4-category phenotypic classification that positions this case as a lethal extreme. Mechanistically, we propose that this loss-of-function variant impairs integrin-\u03b21-mediated mechanotransduction during human neural tube closure, thereby disrupting the extracellular matrix-planar cell polarity axis. Under this mechanism, the primary encephalocele drives downstream pansutural craniosynostosis by reducing intracranial pressure, and endocrine failure by disrupting the hypothalamo-hypophyso-adrenal axis. Ultimately, these findings highlight LAMB1 as an essential, non-redundant scaffold required for both neural architecture and systemic visceral morphogenesis.\n                  <\/jats:p>","DOI":"10.1177\/10935266261477138","type":"journal-article","created":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T12:55:52Z","timestamp":1786625752000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Biallelic Frameshift Variant in LAMB1 Associated with Occipital Meningoencephalocele and Pansutural Craniosynostosis: A Case Report and Review of the Literature"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3930-0011","authenticated-orcid":false,"given":"Sihem","family":"Darouich","sequence":"first","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine de Tunis, Universit\u00e9 de Tunis El Manar, Tunis, Tunisie"},{"name":"Unit\u00e9 de Pathologie Foetale et Placentaire, CHU Habib Bougatfa, Bizerte, Tunisie"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samia","family":"Darouich","sequence":"additional","affiliation":[{"name":"Institut sup\u00e9rieur des Sciences Humaines de Tunis, Universit\u00e9 de Tunis El Manar, Tunis, Tunisie"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed","family":"Khemiri","sequence":"additional","affiliation":[{"name":"D\u00e9partement d\u2019Anatomie et Cytologie Pathologiques, H\u00f4pital Menzel Bourguiba, Menzel Bourguiba, Tunisie"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Houda","family":"Bellamine","sequence":"additional","affiliation":[{"name":"D\u00e9partement d\u2019Anatomie et Cytologie Pathologiques, H\u00f4pital Menzel Bourguiba, Menzel Bourguiba, Tunisie"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,8,13]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0166-2236(03)00212-1"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.145904"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-neuro-062012-170354"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genet-120213-092208"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbc.2024.107429"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2009.10.026"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01112"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.02.005"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10735-010-9275-5"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.26242"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000442"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13378"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63349"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-0040-1722728"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-025-00872-1"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1111\/jog.15358"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001607"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13823"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000200069"},{"key":"e_1_3_2_21_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.143.6.1713"},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.1002\/bies.70107"},{"key":"e_1_3_2_23_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx122"},{"key":"e_1_3_2_24_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.00123"},{"key":"e_1_3_2_25_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2012.04.021"},{"key":"e_1_3_2_26_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-019-01993-y"},{"key":"e_1_3_2_27_2","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.040683"},{"key":"e_1_3_2_28_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0090-3019(96)00213-3"},{"key":"e_1_3_2_29_2","doi-asserted-by":"publisher","DOI":"10.1080\/21541248.2016.1235388"},{"key":"e_1_3_2_30_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.13.2051"},{"key":"e_1_3_2_31_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.189183"},{"key":"e_1_3_2_32_2","doi-asserted-by":"publisher","DOI":"10.1111\/jvim.16316"},{"key":"e_1_3_2_33_2","doi-asserted-by":"publisher","DOI":"10.1159\/000336879"},{"key":"e_1_3_2_34_2","doi-asserted-by":"publisher","DOI":"10.1227\/00006123-198001000-00005"},{"key":"e_1_3_2_35_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.m112.350488"},{"key":"e_1_3_2_36_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2006.03.032"},{"key":"e_1_3_2_37_2","doi-asserted-by":"publisher","DOI":"10.1177\/1933719111408113"}],"container-title":["Pediatric and Developmental Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10935266261477138","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/10935266261477138","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10935266261477138","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,16]],"date-time":"2026-08-16T07:50:04Z","timestamp":1786866604000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/10935266261477138"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8,13]]},"references-count":36,"alternative-id":["10.1177\/10935266261477138"],"URL":"https:\/\/doi.org\/10.1177\/10935266261477138","relation":{},"ISSN":["1093-5266","1615-5742"],"issn-type":[{"value":"1093-5266","type":"print"},{"value":"1615-5742","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8,13]]},"article-number":"10935266261477138"}}