{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T10:11:38Z","timestamp":1778235098001,"version":"3.51.4"},"reference-count":14,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T00:00:00Z","timestamp":1768262400000},"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"],"published-print":{"date-parts":[[2026,5]]},"abstract":"\n Spondylocostal dysostosis type 1 is caused by mutations in the DLL3 gene, which encodes a Notch1 ligand. These mutations lead to defective somitogenesis, resulting in a consistent pattern of abnormal vertebral segmentation. Disruptions in the Notch1 signaling pathways can potentially lead to extraskeletal anomalies, although specific associations with\n DLL3<\/jats:italic>\n mutations are less well-documented. We report a 23-week female fetus presenting with characteristic \u201cpebble beach\u201d sign and rib anomalies. Autopsy revealed pulmonary hypoplasia and a 4\u2009mm fundic nodule bulging on both inner and outer gastric surfaces. Histological examination of the stomach walls revealed multifocal pancreatic heterotopia in the fundus and pylorus, invading the submucosa and\/or the muscularis propria. Genetic analysis confirmed a novel homozygous likely pathogenic frameshift variant in\n DLL3<\/jats:italic>\n (NM_000435.3:c.183_184del, p.Arg61Serfs*39). This case report expands the\n DLL3<\/jats:italic>\n mutational spectrum in spondylocostal dysostosis type 1 and highlights associated pancreatic heterotopia.\n <\/jats:p>","DOI":"10.1177\/10935266251411748","type":"journal-article","created":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T10:02:01Z","timestamp":1768298521000},"page":"239-242","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Spondylocostal Dysostosis-1 Associated With Pancreatic Heterotopia: Coincidence or True Association?"],"prefix":"10.1177","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3930-0011","authenticated-orcid":false,"given":"Sihem","family":"Darouich","sequence":"first","affiliation":[{"name":"Unit\u00e9 de Pathologie F\u0153tale et Placentaire, CHU Habib Bougatfa, Bizerte, Tunisia"},{"name":"Universit\u00e9 de Tunis El Manar, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samia","family":"Darouich","sequence":"additional","affiliation":[{"name":"Institut Sup\u00e9rieur des Sciences Humaines de Tunis, Universit\u00e9 de Tunis El Manar, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmed","family":"Khemiri","sequence":"additional","affiliation":[{"name":"D\u00e9partement d\u2019Anatomie et Cytologie Pathologiques, H\u00f4pital Menzel Bourguiba, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Houda","family":"Bellamine","sequence":"additional","affiliation":[{"name":"D\u00e9partement d\u2019Anatomie et Cytologie Pathologiques, H\u00f4pital Menzel Bourguiba, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2026,1,13]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.3390\/jdb9010005"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.21182"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.996364"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq529"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2009.02.023"},{"key":"e_1_3_2_7_2","unstructured":"Turnpenny PD Sloman M Dunwoodie S. Spondylocostal dysostosis autosomal recessive. In: Adam MP Feldman J Mirzaa GM Pagon RA Wallace SE Amemiya A eds. GeneReviews\u00ae. University of Washington; 2023. Accessed June 29 2025. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK8828\/"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.5.333"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1080\/14767058.2025.2468000"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.3390\/genes13091623"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2019.10.053"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1055\/a-2127-5672"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.arcped.2010.11.003"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00383-009-2499-3"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI27704"}],"container-title":["Pediatric and Developmental Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10935266251411748","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/10935266251411748","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10935266251411748","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T09:46:42Z","timestamp":1778233602000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/10935266251411748"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,13]]},"references-count":14,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,5]]}},"alternative-id":["10.1177\/10935266251411748"],"URL":"https:\/\/doi.org\/10.1177\/10935266251411748","relation":{},"ISSN":["1093-5266","1615-5742"],"issn-type":[{"value":"1093-5266","type":"print"},{"value":"1615-5742","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,13]]}}}