{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T18:15:44Z","timestamp":1778868944716,"version":"3.51.4"},"reference-count":53,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2025,7,3]],"date-time":"2025-07-03T00:00:00Z","timestamp":1751500800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"Intramural Research Program of the National Human Genome Research Institute","award":["ZIAHG200389"],"award-info":[{"award-number":["ZIAHG200389"]}]},{"name":"Intramural Research Program of the National Institute of Dental and Craniofacial Research","award":["1ZIADE000746"],"award-info":[{"award-number":["1ZIADE000746"]}]},{"name":"Intramural-Extramural collaborative NIH grant","award":["U01HD079068"],"award-info":[{"award-number":["U01HD079068"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:sec>\n                    <jats:title>\n                      <jats:italic toggle=\"yes\">Objective<\/jats:italic>\n                    <\/jats:title>\n                    <jats:p>Congenital facial weakness (CFW) disorders are a heterogeneous group of rare conditions, that present at birth, with reduced facial movement, and mask-like facies. This study utilized a multimodality approach to examine the craniofacial and intraoral phenotypes among CFW disorders: Moebius syndrome (MBS), Hereditary Congenital Facial Palsy (HCFP), \u03b2-tubulin isotype 3 syndrome (CFEOM3A-TUBB3), Carey-Fineman-Ziter syndrome (CFZS), and a group of rarer disorders (Other).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>\n                      <jats:italic toggle=\"yes\">Design<\/jats:italic>\n                    <\/jats:title>\n                    <jats:p>Prospective cohort study.<\/jats:p>\n                    <jats:p>\n                      <jats:italic toggle=\"yes\">Setting:<\/jats:italic>\n                      Dental clinic.\n                    <\/jats:p>\n                    <jats:p>\n                      <jats:italic toggle=\"yes\">Participants:<\/jats:italic>\n                      Sixty individuals (sex ratio 1:1, mean age 26.2\u2009\u00b1\u200917.5 years) with a diagnosis of CFW.\n                    <\/jats:p>\n                    <jats:p>\n                      <jats:italic toggle=\"yes\">Interventions:<\/jats:italic>\n                      Deep clinical craniofacial and dental phenotyping, three-dimensional facial surface and cone-beam computed tomography scans, and cephalometric and geometric morphometric analyses.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>\n                      <jats:italic toggle=\"yes\">Results<\/jats:italic>\n                    <\/jats:title>\n                    <jats:p>CFEOM3A-TUBB3, MBS, and CFZS groups had the highest prevalence of craniofacial anomalies; HCFP individuals were least affected. CFEOM3A-TUBB3 had a higher prevalence of short lower face (75%), poor oral hygiene (100%)\/decay (75%), and Class II malocclusion (87.5%). Moebius syndrome was associated with lagophthalmos (90.9%), tongue fissures (72.4%), tight\/small oral orifice (51.7%), and tongue fasciculations (50%). Carey-Fineman-Ziter syndrome had oblong facial shape (100%), downward lip commissures (100%), and abnormal hearing (60%). Moderate-severe decay\/gingivitis correlated with restricted oral orifice, common among patients with facial animation\/sling surgery. Morphologically, the CFW cohort had a relatively small craniofacial centroid size, anthropometric measurements, and distinct craniofacial shapes for each subtype.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>\n                      <jats:italic toggle=\"yes\">Conclusions<\/jats:italic>\n                    <\/jats:title>\n                    <jats:p>Congenital facial weakness can result in abnormal craniofacial development in addition to the loss of facial movement. Multimodality phenotypic characterization of CFW disorders elucidated key clinical findings and distinct craniofacial shape segregation among the different groups.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/10556656251344128","type":"journal-article","created":{"date-parts":[[2025,7,4]],"date-time":"2025-07-04T02:59:52Z","timestamp":1751597992000},"page":"1455-1468","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Multimodality Craniofacial Phenotyping of Congenital Facial Weakness Disorders"],"prefix":"10.1177","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7558-6796","authenticated-orcid":false,"given":"Konstantinia","family":"Almpani","sequence":"first","affiliation":[{"name":"National Institute of Dental and Craniofacial Research"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katelin R.","family":"Devine","sequence":"additional","affiliation":[{"name":"National Institute of Dental and Craniofacial Research"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise K.","family":"Liberton","sequence":"additional","affiliation":[{"name":"National Institute of Dental and Craniofacial Research"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rashmi","family":"Mishra","sequence":"additional","affiliation":[{"name":"National Institute of Dental and Craniofacial Research"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carol","family":"Bassim","sequence":"additional","affiliation":[{"name":"National Institute of Dental and Craniofacial Research"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carol","family":"Van Ryzin","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Flavia M.","family":"Facio","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bryn D.","family":"Webb","sequence":"additional","affiliation":[{"name":"Icahn School of Medicine at Mount Sinai"},{"name":"Icahn School of Medicine at Mount Sinai"},{"name":"Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brenda J.","family":"Barry","sequence":"additional","affiliation":[{"name":"Department of Neurology, Boston Children's Hospital, Boston, MA, USA"},{"name":"F.M. 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