{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:27:33Z","timestamp":1791296853743,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,10,29]],"date-time":"2015-10-29T00:00:00Z","timestamp":1446076800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,3]]},"abstract":"Otopalatodigital spectrum disorders (OPDSD<\/jats:styled-content>) include OPD<\/jats:styled-content> syndromes types 1 and type 2 (OPD1<\/jats:styled-content>, OPD2<\/jats:styled-content>), Melnick\u2013Needles syndrome (MNS<\/jats:styled-content>), and frontometaphyseal dysplasia (FMD<\/jats:styled-content>). These conditions are clinically characterized by variable skeletal dysplasia associated in males, with extra\u2010skeletal features including brain malformations, cleft palate, cardiac anomalies, omphalocele and obstructive uropathy. Mutations in the FLNA<\/jats:styled-content><\/jats:italic> gene have been reported in most FMD<\/jats:styled-content> and OPD2<\/jats:styled-content> cases and in all instances of typical OPD1<\/jats:styled-content> and MNS<\/jats:styled-content>. Here, we report a series of 10 fetuses and a neonatally deceased newborn displaying a multiple congenital anomalies syndrome suggestive of OPDSD<\/jats:styled-content> and in whom we performed FLNA<\/jats:styled-content><\/jats:italic> analysis. We found a global mutation rate of 44%. This series allows expanding the clinical and FLNA<\/jats:styled-content><\/jats:italic> mutational spectrum in OPDSD<\/jats:styled-content>. However, we emphasize difficulties to correctly discriminate OPDSD<\/jats:styled-content> based on clinical criteria in fetuses due to the major overlap between these conditions. Molecular analyses may help pathologists to refine clinical diagnosis according to the type and the location of FLNA<\/jats:styled-content><\/jats:italic> mutations. Discriminating the type of OPDSD<\/jats:styled-content> is of importance in order to improve the genetic counseling to provide to families.<\/jats:p>","DOI":"10.1111\/cge.12679","type":"journal-article","created":{"date-parts":[[2015,9,25]],"date-time":"2015-09-25T08:49:22Z","timestamp":1443170962000},"page":"371-377","source":"Crossref","is-referenced-by-count":23,"title":["Fetal phenotypes in otopalatodigital spectrum disorders"],"prefix":"10.1111","volume":"89","author":[{"given":"S.","family":"Naudion","sequence":"first","affiliation":[{"name":"CHU Bordeaux, Centre de R\u00e9f\u00e9rence des Anomalies du D\u00e9veloppement Embryonnaire Service de G\u00e9n\u00e9tique M\u00e9dicale Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Moutton","sequence":"additional","affiliation":[{"name":"CHU Bordeaux, Centre de R\u00e9f\u00e9rence des Anomalies du D\u00e9veloppement Embryonnaire Service de G\u00e9n\u00e9tique M\u00e9dicale Bordeaux France"},{"name":"University Bordeaux, Laboratoire Maladies Rares G\u00e9n\u00e9tique et M\u00e9tabolisme (MRGM) Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Coupry","sequence":"additional","affiliation":[{"name":"University Bordeaux, Laboratoire Maladies Rares G\u00e9n\u00e9tique et M\u00e9tabolisme (MRGM) Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Sole","sequence":"additional","affiliation":[{"name":"University Bordeaux, Laboratoire Maladies Rares G\u00e9n\u00e9tique et M\u00e9tabolisme (MRGM) Bordeaux France"},{"name":"CHU Bordeaux F\u00e9d\u00e9ration des Neurosciences Cliniques Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Deforges","sequence":"additional","affiliation":[{"name":"CHU Bordeaux, Centre de R\u00e9f\u00e9rence des Anomalies du D\u00e9veloppement Embryonnaire Service de G\u00e9n\u00e9tique M\u00e9dicale Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Guerineau","sequence":"additional","affiliation":[{"name":"University Bordeaux, Laboratoire Maladies Rares G\u00e9n\u00e9tique et M\u00e9tabolisme (MRGM) Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Hubert","sequence":"additional","affiliation":[{"name":"Plateforme G\u00e9nome Transcriptome Centre de G\u00e9nomique Fonctionnelle de Bordeaux, Universit\u00e9 de Bordeaux Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Deves","sequence":"additional","affiliation":[{"name":"CHU Bordeaux, Centre de R\u00e9f\u00e9rence des Anomalies du D\u00e9veloppement Embryonnaire Service de G\u00e9n\u00e9tique M\u00e9dicale Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Pilliod","sequence":"additional","affiliation":[{"name":"University Bordeaux, Laboratoire Maladies Rares G\u00e9n\u00e9tique et M\u00e9tabolisme (MRGM) Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Rooryck","sequence":"additional","affiliation":[{"name":"CHU Bordeaux, Centre de R\u00e9f\u00e9rence des Anomalies du D\u00e9veloppement Embryonnaire Service de G\u00e9n\u00e9tique M\u00e9dicale Bordeaux France"},{"name":"University Bordeaux, Laboratoire Maladies Rares G\u00e9n\u00e9tique et M\u00e9tabolisme (MRGM) Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Abel","sequence":"additional","affiliation":[{"name":"CHU Lyon, Service de G\u00e9n\u00e9tique H\u00f4pital Femme M\u00e8re Enfant, Hospices Civils de Lyon Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Le Breton","sequence":"additional","affiliation":[{"name":"CHU Lyon, Service de Pathologie du Nord H\u00f4pital de la Croix\u2010Rousse Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Collardeau\u2010Frachon","sequence":"additional","affiliation":[{"name":"CHU de Lyon, Centre de Pathologie Est Hospices Civils de Lyon Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.P.","family":"Cordier","sequence":"additional","affiliation":[{"name":"CHU Lyon, Service de G\u00e9n\u00e9tique M\u00e9dicale H\u00f4pital M\u00e8re Enfant Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.L.","family":"Delezoide","sequence":"additional","affiliation":[{"name":"APHP, Service de Biologie du D\u00e9veloppement H\u00f4pital Robert Debr\u00e9 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Goldenberg","sequence":"additional","affiliation":[{"name":"CHU Rouen Service de G\u00e9n\u00e9tique M\u00e9dicale Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Loget","sequence":"additional","affiliation":[{"name":"CHU Rennes Service d'Anatomie Cytologie Pathologique Rennes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Melki","sequence":"additional","affiliation":[{"name":"INSERM U78, Laboratoire de Neurog\u00e9n\u00e9tique Mol\u00e9culaire Universit\u00e9 de Paris XI Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Odent","sequence":"additional","affiliation":[{"name":"CHU de Rennes, Service de G\u00e9n\u00e9tique Clinique Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement CLAD\u2010Ouest, H\u00f4pital Sud Rennes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Patrier","sequence":"additional","affiliation":[{"name":"CHU Rouen Service d'Anatomie Pathologique Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Verloes","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique, APHP\u2010H\u00f4pital universitaire Robert Debr\u00e9 Universit\u00e9 Sorbonne Paris\u2010Cit\u00e9, Facult\u00e9 de M\u00e9decine Denis Diderot\u2010Paris 7, and INSERM UMR 1141 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Viot","sequence":"additional","affiliation":[{"name":"APHP, Service de G\u00e9n\u00e9tique M\u00e9dicale Maternit\u00e9 Port\u2010Royal Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Blesson","sequence":"additional","affiliation":[{"name":"CHRU Tours, Service de G\u00e9n\u00e9tique H\u00f4pital Bretonneau Tours France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Bessi\u00e8res","sequence":"additional","affiliation":[{"name":"APHP, Service Histo\u2010Embryologie et Cytog\u00e9n\u00e9tique H\u00f4pital Necker Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Lacombe","sequence":"additional","affiliation":[{"name":"CHU Bordeaux, Centre de R\u00e9f\u00e9rence des Anomalies du D\u00e9veloppement Embryonnaire Service de G\u00e9n\u00e9tique M\u00e9dicale Bordeaux France"},{"name":"University Bordeaux, Laboratoire Maladies Rares G\u00e9n\u00e9tique et M\u00e9tabolisme (MRGM) Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Arveiler","sequence":"additional","affiliation":[{"name":"CHU Bordeaux, Centre de R\u00e9f\u00e9rence des Anomalies du D\u00e9veloppement Embryonnaire Service de G\u00e9n\u00e9tique M\u00e9dicale Bordeaux France"},{"name":"University Bordeaux, Laboratoire Maladies Rares G\u00e9n\u00e9tique et M\u00e9tabolisme (MRGM) Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Goizet","sequence":"additional","affiliation":[{"name":"CHU Bordeaux, Centre de R\u00e9f\u00e9rence des Anomalies du D\u00e9veloppement Embryonnaire Service de G\u00e9n\u00e9tique M\u00e9dicale Bordeaux France"},{"name":"University Bordeaux, Laboratoire Maladies Rares G\u00e9n\u00e9tique et M\u00e9tabolisme (MRGM) Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Fergelot","sequence":"additional","affiliation":[{"name":"CHU Bordeaux, Centre de R\u00e9f\u00e9rence des Anomalies du D\u00e9veloppement Embryonnaire Service de G\u00e9n\u00e9tique M\u00e9dicale Bordeaux France"},{"name":"University Bordeaux, Laboratoire Maladies Rares G\u00e9n\u00e9tique et M\u00e9tabolisme (MRGM) Bordeaux France"},{"name":"Plateforme G\u00e9nome Transcriptome Centre de G\u00e9nomique Fonctionnelle de Bordeaux, Universit\u00e9 de Bordeaux Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,10,29]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201654"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1119"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.4161\/cam.5.2.14401"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp442"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2005.04.001"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.01.018"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000228)90:5<407::AID-AJMG11>3.0.CO;2-D"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31322"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33260"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000320184"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102959"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31696"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tcb.2009.12.001"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33901"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-014-1481-x"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12679","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12679","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T11:10:39Z","timestamp":1696331439000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12679"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,10,29]]},"references-count":15,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016,3]]}},"alternative-id":["10.1111\/cge.12679"],"URL":"https:\/\/doi.org\/10.1111\/cge.12679","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,10,29]]}}}