{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T22:39:31Z","timestamp":1782513571698,"version":"3.54.5"},"reference-count":24,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2017,11,14]],"date-time":"2017-11-14T00:00:00Z","timestamp":1510617600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100011773","name":"Regional Council of Burgundy","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100011773","id-type":"DOI","asserted-by":"crossref"}]},{"name":"TUB\u0130TAK","award":["SBAG-112418"],"award-info":[{"award-number":["SBAG-112418"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Frontonasal dysplasias are rare congenital malformations of frontonasal process\u2010derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia. We identified six individuals with a similar phenotype, including one discordant monozygous twin. Facial features were remarkable by nasal deformity with creased ridge and depressed or absent tip, widely spaced eyes, almond\u2010shaped palpebral fissures, and downturned corners of the mouth. All had apparently normal psychomotor development. In addition, upper limb anomalies, frontonasal encephalocele, corpus callosum agenesis, choanal atresia, and congenital heart defect were observed. We identified five reports in the literature of patients presenting with the same phenotype. Exome sequencing was performed on DNA extracted from blood of two individuals, no candidate gene was identified. In conclusion, we report six novel simplex individuals presenting with a specific frontonasal dysplasia entity associating recognizable facial features, limb and visceral malformations, and apparently normal development. The identification of discordant monozygotic twins supports the hypothesis of a mosaic disorder. Although previous patients have been reported, this is the first series, allowing delineation of a clinical subtype of frontonasal dysplasia, paving the way toward the identification of its molecular etiology.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38490","type":"journal-article","created":{"date-parts":[[2017,11,14]],"date-time":"2017-11-14T16:25:44Z","timestamp":1510676744000},"page":"3136-3142","source":"Crossref","is-referenced-by-count":14,"title":["Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2193-8685","authenticated-orcid":false,"given":"Daphn\u00e9","family":"Lehalle","sequence":"first","affiliation":[{"name":"Equipe GAD INSERM LNC UMR 1231 Facult\u00e9 de M\u00e9decine Universit\u00e9 de Bourgogne Franche\u2010Comt\u00e9 Dijon France"},{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs de l'Interr\u00e9gion Est Centre Hospitalier Universitaire Dijon Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Umut","family":"Altunoglu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Istanbul Medical Faculty Istanbul University Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ange\u2010Line","family":"Bruel","sequence":"additional","affiliation":[{"name":"Equipe GAD INSERM LNC UMR 1231 Facult\u00e9 de M\u00e9decine Universit\u00e9 de Bourgogne Franche\u2010Comt\u00e9 Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Arnaud","sequence":"additional","affiliation":[{"name":"Service de Neurochirurgie H\u00f4pital Necker Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Blanchet","sequence":"additional","affiliation":[{"name":"Genetic Departement for Rare Disease and Personalised Medicine Clinical Division CHU Montpellier Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jong\u2010Woo","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Plastic &amp; Reconstructive Surgery College of Medicine, University of Ulsan, Seoul Asan Medical Center Seoul South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"D\u00e9sir","sequence":"additional","affiliation":[{"name":"Center for Human Genetics Institut de Pathologie et G\u00e9n\u00e9tique (I.P.G.) Gosselies Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esra","family":"Kili\u00e7","sequence":"additional","affiliation":[{"name":"Pediatric Genetics Pediatric Hematology Oncology Research &amp; Training Hospital Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damien","family":"Lederer","sequence":"additional","affiliation":[{"name":"Center for Human Genetics Institut de Pathologie et G\u00e9n\u00e9tique (I.P.G.) Gosselies Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucile","family":"Pinson","sequence":"additional","affiliation":[{"name":"Genetic Departement for Rare Disease and Personalised Medicine Clinical Division CHU Montpellier Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christel","family":"Thauvin\u2010Robinet","sequence":"additional","affiliation":[{"name":"Equipe GAD INSERM LNC UMR 1231 Facult\u00e9 de M\u00e9decine Universit\u00e9 de Bourgogne Franche\u2010Comt\u00e9 Dijon France"},{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs de l'Interr\u00e9gion Est Centre Hospitalier Universitaire Dijon Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amihood","family":"Singer","sequence":"additional","affiliation":[{"name":"Pediatrics and Medical Genetics Barzilai Medical Center Ashkelon Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julien","family":"Thevenon","sequence":"additional","affiliation":[{"name":"Equipe GAD INSERM LNC UMR 1231 Facult\u00e9 de M\u00e9decine Universit\u00e9 de Bourgogne Franche\u2010Comt\u00e9 Dijon France"},{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs de l'Interr\u00e9gion Est Centre Hospitalier Universitaire Dijon Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Callier","sequence":"additional","affiliation":[{"name":"Equipe GAD INSERM LNC UMR 1231 Facult\u00e9 de M\u00e9decine Universit\u00e9 de Bourgogne Franche\u2010Comt\u00e9 Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hulya","family":"Kayserili","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Istanbul Medical Faculty Istanbul University Istanbul Turkey"},{"name":"Department of Medical Genetics Ko\u00e7 University School of Medicine (KUSoM) Zeytinburnu, \u0130stanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9770-444X","authenticated-orcid":false,"given":"Laurence","family":"Faivre","sequence":"additional","affiliation":[{"name":"Equipe GAD INSERM LNC UMR 1231 Facult\u00e9 de M\u00e9decine Universit\u00e9 de Bourgogne Franche\u2010Comt\u00e9 Dijon France"},{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs de l'Interr\u00e9gion Est Centre Hospitalier Universitaire Dijon Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,11,14]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37217"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0b013e31818c0768"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000450533"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1248228"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200310000-00004"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1126\/sciadv.1600060"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp391"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2009.12.002"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-199101000-00004"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng985"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30280"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002567"},{"key":"e_1_2_8_14_1","first-page":"123","article-title":"Malformations unique to the twinning process","volume":"69","author":"Nance W. 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