{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T12:48:47Z","timestamp":1791550127346,"version":"4.3.4"},"reference-count":41,"publisher":"SAGE Publications","issue":"11","license":[{"start":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T00:00:00Z","timestamp":1771977600000},"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":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2026,11]]},"abstract":"<jats:p>\n                    Mandibulofacial dysostosis with microcephaly (MFDM) is a rare craniofacial syndrome due to pathogenic variants in\n                    <jats:italic toggle=\"yes\">EFTUD2<\/jats:italic>\n                    . Affected patients may present with cleft palate, dysmorphic craniofacial features, short stature, microcephaly, developmental delay\/intellectual disability, and variable congenital anomalies. Gastrointestinal anomalies include esophageal atresia and tracheoesophageal fistula. Congenital diaphragmatic hernia (CDH) has not been previously reported. Here, we present a novel case of MFDM with CDH in a late preterm female with multiple congenital malformations observed prenatally. Postnatal genetic testing was diagnostic for a heterozygous\n                    <jats:italic toggle=\"yes\">de novo<\/jats:italic>\n                    pathogenic variant in\n                    <jats:italic toggle=\"yes\">EFTUD2<\/jats:italic>\n                    , consistent with a diagnosis of MFDM.\n                  <\/jats:p>","DOI":"10.1177\/10556656261424482","type":"journal-article","created":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T16:40:54Z","timestamp":1772037654000},"page":"3995-3999","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel Association Between Mandibulofacial Dysostosis with Microcephaly and Congenital Diaphragmatic Hernia"],"prefix":"10.1177","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-7505-5766","authenticated-orcid":false,"given":"Katerina L.","family":"Aris","sequence":"first","affiliation":[{"name":"The Ohio State University College of 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