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It is characterized by mandibulofacial dysplasia, microcephaly, malformed ears, cleft palate, growth and intellectual disability. MFDM can be easily misdiagnosed due to its phenotypic overlap with other craniofacial dysostosis syndromes. The clinical presentation of MFDM is highly variable among patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A patient with craniofacial anomalies was enrolled and evaluated by a multidisciplinary team. To make a definitive diagnosis, whole\u2010exome sequencing was performed, followed by validation by Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The patient presented with extensive facial bone dysostosis, upward slanting palpebral fissures, outer and middle ear malformation, a previously unreported orbit anomaly, and spina bifida occulta. A novel, pathogenic insertion mutation (c.215_216insT: p.Tyr73Valfs*4) in <jats:italic>EFTUD2<\/jats:italic> was identified as the likely cause of the disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We diagnosed this atypical case of MFDM by the detection of a novel pathogenetic mutation in <jats:italic>EFTUD2<\/jats:italic>. We also observed previously unreported features. These findings enrich both the genotypic and phenotypic spectrum of MFDM.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2426","type":"journal-article","created":{"date-parts":[[2024,4,2]],"date-time":"2024-04-02T06:49:54Z","timestamp":1712040594000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in <scp><i>EFTUD2<\/i><\/scp>"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5685-9832","authenticated-orcid":false,"given":"Ying","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Facial Plastic and Reconstructive Surgery Eye &amp; ENT Hospital of Fudan University  Shanghai China"},{"name":"ENT Institute Eye &amp; ENT Hospital of Fudan University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6013-1000","authenticated-orcid":false,"given":"Run","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Facial Plastic and Reconstructive Surgery Eye &amp; ENT Hospital of Fudan University  Shanghai China"},{"name":"ENT Institute Eye &amp; ENT Hospital of Fudan University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4041-9960","authenticated-orcid":false,"given":"Xin","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Facial Plastic and Reconstructive Surgery Eye &amp; ENT Hospital of Fudan University  Shanghai China"},{"name":"ENT Institute Eye &amp; ENT Hospital of Fudan University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naier","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Radiology Eye &amp; ENT Hospital of Fudan University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chenlong","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Facial Plastic and Reconstructive Surgery Eye &amp; ENT Hospital of Fudan University  Shanghai China"},{"name":"ENT Institute Eye &amp; 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ENT Hospital of Fudan University  Shanghai China"},{"name":"ENT Institute Eye &amp; ENT Hospital of Fudan University  Shanghai China"},{"name":"NHC Key Laboratory of Hearing Medicine Fudan University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Facial Plastic and Reconstructive Surgery Eye &amp; ENT Hospital of Fudan University  Shanghai China"},{"name":"ENT Institute Eye &amp; ENT Hospital of Fudan University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,4]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61977"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.183"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddab051"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.07.003"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010013\u20101295\u20102"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23397"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12328"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mcd.0000220603.09661.7e"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22924"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22517"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.023"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.radcr.2016.11.003"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12091392"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.03.003"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2022.104478"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr\u20102019\u2010229831"},{"key":"e_1_2_13_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/s11689\u2010022\u201009459\u20105"},{"key":"e_1_2_13_19_1","doi-asserted-by":"publisher","DOI":"10.1177\/10556656221136177"},{"key":"e_1_2_13_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40246\u2010019\u20100238\u2010y"},{"key":"e_1_2_13_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000214"},{"key":"e_1_2_13_22_1","doi-asserted-by":"publisher","DOI":"10.1597\/13\u2010221"}],"container-title":["Molecular Genetics &amp; 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