{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T17:38:39Z","timestamp":1789753119700,"version":"4.0.1"},"reference-count":24,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,6,2]],"date-time":"2020-06-02T00:00:00Z","timestamp":1591056000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","award":["1.7"],"award-info":[{"award-number":["1.7"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fraser syndrome (FS) is a rare autosomal recessive multiple congenital malformation syndrome characterized by cryptophthalmos, cutaneous syndactyly, renal agenesis, ambiguous genitalia, and laryngotracheal anomalies. It is caused by biallelic mutations of <jats:italic>FRAS1<\/jats:italic>, <jats:italic>FREM2<\/jats:italic>, and <jats:italic>GRIP1<\/jats:italic> genes, encoding components of a protein complex that mediates embryonic epithelial\u2013mesenchymal interactions. Anecdotal reports have described abnormal orodental findings in FS, but no study has as yet addressed the orodental findings of FS systematically. We reviewed dental radiographs of 10 unrelated patients with FS of different genetic etiologies. Dental anomalies were present in all patients with FS and included hypodontia, dental crowding, medial diastema, and retained teeth. A very consistent pattern of shortened dental roots of most permanent teeth as well as altered length\/width ratio with shortened dental crowns of upper incisors was also identified. These findings suggest that the FRAS1\u2013FREM complex mediates critical mesenchymal\u2013epithelial interactions during dental crown and root development. The orodental findings of FS reported herein represent a previously underestimated manifestation of the disorder with significant impact on orodental health for affected individuals. Integration of dentists and orthodontists into the multidisciplinary team for management of FS is therefore recommended.<\/jats:p>","DOI":"10.1002\/ajmg.a.61610","type":"journal-article","created":{"date-parts":[[2020,6,3]],"date-time":"2020-06-03T06:22:07Z","timestamp":1591165327000},"page":"1681-1689","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Characteristic dental pattern with hypodontia and short roots in Fraser syndrome"],"prefix":"10.1002","volume":"182","author":[{"given":"Felix","family":"Kunz","sequence":"first","affiliation":[{"name":"Department of Orthodontics University Hospital of W\u00fcrzburg  W\u00fcrzburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0376-499X","authenticated-orcid":false,"given":"H\u00fclya","family":"Kayserili","sequence":"additional","affiliation":[{"name":"KO\u00c7 University School of Medicine (KUSoM) Medical Genetics Department Topkapi Zeytinburnu  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9889-1969","authenticated-orcid":false,"given":"Alina","family":"Midro","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Medical University  Bia\u0142ystok Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepthi","family":"de Silva","sequence":"additional","affiliation":[{"name":"Department of Physiology, Faculty of Medicine University of Kelaniya  Ragama Sri Lanka"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sriyani","family":"Basnayake","sequence":"additional","affiliation":[{"name":"Orthodontic Unit Lady Ridgway Hospital  Colombo Sri Lanka"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yeliz","family":"G\u00fcven","sequence":"additional","affiliation":[{"name":"Department of Pedodontics, Faculty of Dentistry Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Borys","sequence":"additional","affiliation":[{"name":"Department of Maxillofacial and Plastic Surgery Medical University of Bialystok  Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denny","family":"Schanze","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Hospital  Magdeburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelika","family":"Stellzig\u2010Eisenhauer","sequence":"additional","affiliation":[{"name":"Department of Orthodontics University Hospital of W\u00fcrzburg  W\u00fcrzburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6511-2615","authenticated-orcid":false,"given":"Agnes","family":"Bloch\u2010Zupan","sequence":"additional","affiliation":[{"name":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), INSERM U1258, CNRS\u2010UMR7104, Universit\u00e9 de Strasbourg  Illkirch\u2010Graffenstaden France"},{"name":"H\u00f4pitaux Universitaires de Strasbourg (HUS), P\u00f4le de M\u00e9decine et Chirurgie Bucco\u2010Dentaires, H\u00f4pital Civil, Centre de r\u00e9f\u00e9rence des maladies rares orales et dentaires, O\u2010Rares, Fili\u00e8re Sant\u00e9 Maladies rares TETE COU, European Reference Network ERN CRANIO  Strasbourg France"},{"name":"Facult\u00e9 de Chirurgie Dentaire Universit\u00e9 de Strasbourg  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1618-9269","authenticated-orcid":false,"given":"Martin","family":"Zenker","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Hospital  Magdeburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,6,2]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.08.010"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep45181"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.24610"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1155\/2014\/486108"},{"issue":"3","key":"e_1_2_10_6_1","first-page":"231","article-title":"Clinical manifestations and oral findings in Fraser syndrome","volume":"74","author":"Diniz M. 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