{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T23:09:19Z","timestamp":1780614559123,"version":"3.54.1"},"reference-count":39,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,1,18]],"date-time":"2023-01-18T00:00:00Z","timestamp":1674000000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100007797","name":"Helsingin Yliopisto","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007797","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005634","name":"Suomen Hammasl\u00e4\u00e4k\u00e4riseura Apollonia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005634","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Orthod Craniofacial Res"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We aimed to characterize the genetic basis and craniofacial and dental features of Finnish patients with Axenfeld\u2010Rieger syndrome (ARS). Mutational analyses of seven patients in five families were performed by sequencing or comparative genomic hybridization. Phenotypic analysis was based on both clinical and radiographic examinations, as well as on medical data. Lateral cephalometric radiographs of five patients were analysed using Viewbox 3.1\u2010Cephalometric Software. The cephalometric values were compared to Finnish population\u2010standard values of the same age and gender. Two frameshift mutations and three whole gene deletions were detected in five families. Class III skeletal relationship with retrognathic maxilla and mildly retrognathic mandible were detected in all five patients studied. Significant differences compared with the control values were in SNA (<jats:italic>P<\/jats:italic>\u00a0=\u00a0.0014), ANB (<jats:italic>P<\/jats:italic>\u00a0=\u00a0.0043) and SNB angles (<jats:italic>P<\/jats:italic>\u00a0=\u00a0.013). Five patients had anterior crossbite. Six patients showed tooth agenesis. The average number of missing teeth (third molars excluded) was 9 (range 0\u201015). The tooth agenesis rate was 52% in maxilla and 26% in mandible. Maxillary central and lateral permanent incisors were most often missing (rate 71% equally) while no one lacked canines or first molars in mandible. Two patients had a supernumerary mandibular permanent incisor. Six patients had either taurodontic and\/or single\u2010rooted molars. Our results suggest that class III skeletal relationship with maxillary and mandibular retrognathism, anterior crossbite, maxillary incisor agenesis and taurodontic, even pyramidal, roots are common determinants of ARS caused by <jats:italic>PITX2<\/jats:italic> mutations.<\/jats:p>","DOI":"10.1111\/ocr.12631","type":"journal-article","created":{"date-parts":[[2023,1,9]],"date-time":"2023-01-09T08:33:38Z","timestamp":1673253218000},"page":"320-330","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Craniofacial and dental features of Axenfeld\u2010Rieger syndrome patients with <i>PITX2<\/i> mutations"],"prefix":"10.1111","volume":"26","author":[{"given":"Sirpa","family":"Arte","sequence":"first","affiliation":[{"name":"Department of Oral and Maxillofacial Diseases University of Helsinki  Helsinki Finland"},{"name":"Department of Oral and Maxillofacial Diseases Helsinki University Hospital  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minna","family":"P\u00f6yh\u00f6nen","sequence":"additional","affiliation":[{"name":"Department of Genetics, HUSLAB Helsinki University Hospital Diagnostic Center  Helsinki Finland"},{"name":"Department of Medical and Clinical Genetics University of Helsinki  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmi","family":"Myllym\u00e4ki","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Diseases University of Helsinki  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Ronkainen","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Diseases University of Helsinki  Helsinki Finland"},{"name":"Department of Oral and Maxillofacial Diseases Helsinki University Hospital  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9301-3078","authenticated-orcid":false,"given":"David P.","family":"Rice","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Diseases University of Helsinki  Helsinki Finland"},{"name":"Department of Oral and Maxillofacial Diseases Helsinki University Hospital  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2109-124X","authenticated-orcid":false,"given":"Pekka","family":"Nieminen","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Diseases University of Helsinki  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,1,18]]},"reference":[{"key":"e_1_2_8_2_1","unstructured":"Orphanet: The portal for rare diseases and orphan drugs.2011.www.orpha.net. 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