{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T12:14:39Z","timestamp":1783426479511,"version":"3.54.6"},"reference-count":14,"publisher":"SAGE Publications","issue":"8","license":[{"start":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T00:00:00Z","timestamp":1759449600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T00:00:00Z","timestamp":1759449600000},"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":[[2026,8]]},"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>\n                      <jats:italic toggle=\"yes\">DDX3X<\/jats:italic>\n                      -related neurodevelopmental disorder (\n                      <jats:italic toggle=\"yes\">DDX3X<\/jats:italic>\n                      -NDD) is a rare genetic condition that primarily affects females, leading to developmental delays and intellectual disability.\n                      <jats:italic toggle=\"yes\">DDX3X<\/jats:italic>\n                      variants, primarily\n                      <jats:italic toggle=\"yes\">de novo<\/jats:italic>\n                      , account for an estimated 1% to 3% of females with unknown causes of intellectual disability. Affected males have also been reported, often with the variant being inherited from an asymptomatic or mildly symptomatic mother.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Description<\/jats:title>\n                    <jats:p>\n                      <jats:italic toggle=\"yes\">Case 1<\/jats:italic>\n                      . The patient is a 22-month-old female, born full-term, with a history of developmental delay and complete bilateral cleft lip and palate (CLP). Whole exome sequencing (WES) identified a\n                      <jats:italic toggle=\"yes\">de novo<\/jats:italic>\n                      pathogenic missense variant in the\n                      <jats:italic toggle=\"yes\">DDX3X<\/jats:italic>\n                      gene,\n                      <jats:italic toggle=\"yes\">DDX3X<\/jats:italic>\n                      c.1039G\u2009&gt;\u2009T (p.Asp347Tyr). Developmentally, the patient is progressing gradually\u2014can sit unassisted, but remains nonverbal.\n                    <\/jats:p>\n                    <jats:p>\n                      <jats:italic toggle=\"yes\">Case 2<\/jats:italic>\n                      . The patient is a 4-year-old female, born full-term, with a history of right hemifacial microsomia and\n                      <jats:italic toggle=\"yes\">DDX3X<\/jats:italic>\n                      -NDD, and no known family history. The patient has global developmental delay, but is able to speak in 3- to 4-word sentences. WES identified a\n                      <jats:italic toggle=\"yes\">de novo<\/jats:italic>\n                      <jats:italic toggle=\"yes\">DDX3X<\/jats:italic>\n                      frameshift variant, c.841_842delC&gt;A (p.Gln281AspfsX13). Facial features include right-sided hemifacial microsomia, with right enophthalmos, microtia, mandibular hypoplasia, and bilateral facial nerve weakness. The patient is well-managed at home and receives regular care from neurology and speech therapy at school.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>\n                      Although there have been numerous reports on the neurodevelopmental aspects of\n                      <jats:italic toggle=\"yes\">DDX3X<\/jats:italic>\n                      -NDD, craniofacial findings such as hemifacial microsomia and CLP have been minimally reported in the literature. Given the association between\n                      <jats:italic toggle=\"yes\">DDX3X<\/jats:italic>\n                      variants and craniofacial findings, plastic surgeons and their multidisciplinary team should be aware of this genetic condition.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/10556656251383776","type":"journal-article","created":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T18:15:21Z","timestamp":1759515321000},"page":"2667-2670","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["The Great Escape: A Case Series on\n                    <i>DDX3X<\/i>\n                    Craniofacial Phenotypes in Females"],"prefix":"10.1177","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7800-9273","authenticated-orcid":false,"given":"Ellen","family":"Wang","sequence":"first","affiliation":[{"name":"McGovern Medical School at the University of Texas Health Science Center at Houston and Children's Memorial Hermann Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-2589-2258","authenticated-orcid":false,"given":"Kylie","family":"Swiekatowski","sequence":"additional","affiliation":[{"name":"McGovern Medical School at the University of Texas Health Science Center at Houston and Children's Memorial Hermann Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1986-6387","authenticated-orcid":false,"given":"Danielle","family":"Sobol","sequence":"additional","affiliation":[{"name":"McGovern Medical School at the University of Texas Health Science Center at Houston and Children's Memorial Hermann Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4602-5054","authenticated-orcid":false,"given":"Matthew","family":"Greives","sequence":"additional","affiliation":[{"name":"McGovern Medical School at the University of Texas Health Science Center at Houston and Children's Memorial Hermann Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5263-9581","authenticated-orcid":false,"given":"Emily","family":"Hansen-Kiss","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Biomedical Sciences, UTHealth Houston School of Dentistry, Houston, TX, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,10,3]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.07.004"},{"key":"e_1_3_2_3_2","volume-title":"GeneRviews","author":"Johnson-Kerner B","year":"2020","unstructured":"Johnson-Kerner B, Snijders Blok L, Suit L, Thomas J, Kleefstra T, Sherr EH.GeneRviews. University of Washington, Seattle, WA; 2020, PMID: 32852922 Bookshelf ID: NBK561282."},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2023.06.003"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2020.01.042"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2022.10.009"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.999442"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-025-01832-x"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61061"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/jnc.16174"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.622"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2022.793001"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13229-021-00431-z"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2021.782445"},{"key":"e_1_3_2_15_2","volume-title":"StatPearls","author":"Young A","year":"2023","unstructured":"Young A, Spinner A. Hemifacial microsomia. In: StatPearls. StatPearls Publishing; 2023. 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