{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T03:13:02Z","timestamp":1778641982653,"version":"3.51.4"},"reference-count":20,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,2,18]],"date-time":"2026-02-18T00:00:00Z","timestamp":1771372800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,2,18]],"date-time":"2026-02-18T00:00:00Z","timestamp":1771372800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","award":["R03DE027497"],"award-info":[{"award-number":["R03DE027497"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","award":["P20 GM121342"],"award-info":[{"award-number":["P20 GM121342"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Phelan\u2013McDermid syndrome (PMS) frequently presents with distinctive facial features, although a typical facial phenotype for this condition has not been well characterized. Facial dysmorphology assessments can be subjective, depending on the experience and training of the clinical geneticist conducting the patient evaluation. In this investigation, we sought to quantitatively assess craniofacial features in Phelan\u2013McDermid syndrome. Three\u2010dimension (3D) morphometric assessment was conducted of 100 children and young adults diagnosed with PMS and 536 age\u2010 and sex\u2010matched typically developing subjects obtained from the FaceBase consortium. The data were analyzed using principal component analysis (PCA), Procrustes MANOVA, and canonical variates analysis (CVA). We found that people with PMS aged 3\u201332\u2009years have quantitatively distinctive craniofacial features compared to age\u2010 and sex\u2010matched normed people. We observed an elongated face, a pointed chin, a flattened midface, and nasal expansion as characteristic of the PMS facial phenotype. Further, distinct growth patterns were observed, with children ages 3\u20136 and 7\u201312\u2009years having more rapid growth compared to matched normed samples. While people with PMS have distinctive facial features, individual variation is the greatest contribution to facial variation. Quantitative assessment of craniofacial features paired with genotype can further our understanding of genetic contributions to craniofacial development.<\/jats:p>","DOI":"10.1111\/cge.70146","type":"journal-article","created":{"date-parts":[[2026,2,18]],"date-time":"2026-02-18T15:50:13Z","timestamp":1771429813000},"page":"1070-1075","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Craniofacial Dysmorphology Associated With Phelan\u2013\n                    <scp>McDermid<\/scp>\n                    Syndrome Using Three\u2010Dimensional Morphometrics"],"prefix":"10.1111","volume":"109","author":[{"given":"Katherine","family":"Weisensee","sequence":"first","affiliation":[{"name":"Department of Anthropology, Sociology, and Criminal Justice Clemson University  Clemson South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1625-7404","authenticated-orcid":false,"given":"Sara M.","family":"Sarasua","sequence":"additional","affiliation":[{"name":"School of Nursing Clemson University  Clemson South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lior","family":"Rennert","sequence":"additional","affiliation":[{"name":"Department of Public Health Sciences Clemson University  Clemson South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Curtis","family":"Rogers","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenville South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katy","family":"Phelan","sequence":"additional","affiliation":[{"name":"Florida Cancer Specialists &amp; Research Institute  Fort Myers Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7415-4262","authenticated-orcid":false,"given":"Kara","family":"Powder","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences Clemson University  Clemson South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luigi","family":"Boccuto","sequence":"additional","affiliation":[{"name":"School of Nursing Clemson University  Clemson South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,2,18]]},"reference":[{"key":"e_1_2_11_2_1","volume-title":"GeneReviews","author":"Phelan K.","year":"2024"},{"key":"e_1_2_11_3_1","unstructured":"Phelan\u2010McDermid Syndrome Foundation \u201cPMSF DataHub \u201d 2022."},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.8.575"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/2040-2392-4-18"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.652454"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-014-1423-7"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22054"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.135434"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1177\/00220345221107905"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.191213"},{"key":"e_1_2_11_12_1","volume-title":"Anthropometry of the Head and Face","author":"Farkas L. G.","year":"1994"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.7717\/peerj-cs.249"},{"key":"e_1_2_11_14_1","unstructured":"\u201cdHAL Software \u201d Viewbox\u00a04.0 2021 4.0."},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-0998.2010.02924.x"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2018.09.008"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01592-5"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1159\/000334260"},{"key":"e_1_2_11_19_1","first-page":"464","article-title":"Clinical, Cytogenetic, and Molecular Characterization of Seven Patients With Deletions of Chromosome 22q13.3","volume":"54","author":"Nesslinger N. 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