{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T23:03:47Z","timestamp":1790550227342,"version":"4.1.0"},"reference-count":39,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,4,21]],"date-time":"2022-04-21T00:00:00Z","timestamp":1650499200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100011773","name":"Conseil r\u00e9gional de Bourgogne-Franche-Comt\u00e9","doi-asserted-by":"publisher","award":["PARI 2015"],"award-info":[{"award-number":["PARI 2015"]}],"id":[{"id":"10.13039\/501100011773","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014865","name":"Fondation Maladies Rares","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014865","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":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Unique or multiple congenital facial skin polyps are features of several rare syndromes, from the most well\u2010known Pai syndrome (PS), to the less recognized oculoauriculofrontonasal syndrome (OAFNS), encephalocraniocutaneous lipomatosis (ECCL), or Sakoda complex (SC). We set up a research project aiming to identify the molecular bases of PS. We reviewed 27 individuals presenting with a syndromic frontonasal polyp and initially referred for PS. Based on strict clinical classification criteria, we could confirm only nine (33%) typical and two (7%) atypical PS individuals. The remaining ones were either OAFNS (11\/27\u201441%) or presenting with an overlapping syndrome (5\/27\u201419%). Because of the phenotypic overlap between these entities, OAFNS, ECCL, and SC can be either considered as differential diagnosis of PS or part of the same spectrum. Exome and\/or genome sequencing from blood DNA in 12 patients and from affected tissue in one patient failed to identify any replication in candidate genes. Taken together, our data suggest that conventional approaches routinely utilized for the identification of molecular etiologies responsible for Mendelian disorders are inconclusive. Future studies on affected tissues and multiomics studies will thus be required in order to address either the contribution of mosaic or noncoding variation in these diseases.<\/jats:p>","DOI":"10.1002\/ajmg.a.62739","type":"journal-article","created":{"date-parts":[[2022,4,21]],"date-time":"2022-04-21T11:54:15Z","timestamp":1650542055000},"page":"2036-2047","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2193-8685","authenticated-orcid":false,"given":"Daphn\u00e9","family":"Lehalle","sequence":"first","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs de l'Interr\u00e9gion Est FHU TRANSLAD, Centre Hospitalier Universitaire Dijon  Dijon France"},{"name":"Equipe GAD, INSERM LNC UMR 1231, FHU TRANSLAD, Facult\u00e9 de M\u00e9decine Universit\u00e9 de Bourgogne Franche\u2010Comt\u00e9  Dijon France"},{"name":"Unit\u00e9 Fonctionnelle d'Innovation diagnostique des maladies rares P\u00f4le de Biologie, FHU\u2010TRANSLAD, CHU Dijon Bourgogne  Dijon France"},{"name":"D\u00e9partement de G\u00e9n\u00e9tique AP\u2010HP, H\u00f4pital de la Piti\u00e9\u2010Salp\u00eatri\u00e8re  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0526-465X","authenticated-orcid":false,"given":"Ange\u2010Line","family":"Bruel","sequence":"additional","affiliation":[{"name":"Equipe GAD, INSERM LNC UMR 1231, FHU TRANSLAD, Facult\u00e9 de M\u00e9decine Universit\u00e9 de Bourgogne Franche\u2010Comt\u00e9  Dijon France"},{"name":"Unit\u00e9 Fonctionnelle d'Innovation diagnostique des maladies rares P\u00f4le de Biologie, FHU\u2010TRANSLAD, CHU Dijon Bourgogne  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Vitobello","sequence":"additional","affiliation":[{"name":"Equipe GAD, INSERM LNC UMR 1231, FHU TRANSLAD, Facult\u00e9 de M\u00e9decine Universit\u00e9 de Bourgogne Franche\u2010Comt\u00e9  Dijon France"},{"name":"Unit\u00e9 Fonctionnelle d'Innovation diagnostique des maladies rares P\u00f4le de Biologie, FHU\u2010TRANSLAD, CHU Dijon Bourgogne  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8986-8222","authenticated-orcid":false,"given":"Anne\u2010Sophie","family":"Denomm\u00e9\u2010Pichon","sequence":"additional","affiliation":[{"name":"Equipe GAD, INSERM LNC UMR 1231, FHU TRANSLAD, Facult\u00e9 de M\u00e9decine Universit\u00e9 de Bourgogne Franche\u2010Comt\u00e9  Dijon France"},{"name":"Unit\u00e9 Fonctionnelle d'Innovation diagnostique des maladies rares P\u00f4le de Biologie, 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