{"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":1789753119729,"version":"4.0.1"},"reference-count":39,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2016,12,9]],"date-time":"2016-12-09T00:00:00Z","timestamp":1481241600000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Fraser syndrome (FS) is a rare malformation recessive disorder. Major criteria are cryptophtalmos, syndactyly, respiratory, genital and urinary tract anomalies. Few prenatal presentations have been reported.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>We analyzed the prenatal and postnatal fetal phenotype in 38 cases of FS, including 25 pregnancy termination cases, 8 intra\u2010uterine death cases and 4 cases that died after birth.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Including both prenatal and postnatal fetal phenotypic evaluation, all cases presented dysmorphic features with nose and ear dysplasia. Renal anomalies and syndactyly were present in 37\/38 cases, cryptophtalmos in 36\/38, airways anomalies in 30\/37 and genital anomalies in 30\/35 cases. Anomalies of the abdominal wall such as low set umbilicus and omphalocele were found in 31 cases. Among the 26 cases for which ultrasound data were available, detectable anomalies included oligohydramnios (22), ascites\/hydrops (9), renal anomalies (20), evidence for high airways obstruction (11), ophthalmologic anomalies (4), ear dysplasia (2) and syndactyly (2).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study shows that the postnatal phenotype of FS is very specific, whereas oligohydramnios hampers the prenatal recognition of the cardinal FS diagnosis criteria. Association of oligohydramnios, kidney agenesis and CHAOS should lead to consider this diagnosis. \u00a9 2016 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.4971","type":"journal-article","created":{"date-parts":[[2016,11,17]],"date-time":"2016-11-17T15:22:45Z","timestamp":1479396165000},"page":"1270-1275","source":"Crossref","is-referenced-by-count":33,"title":["Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases"],"prefix":"10.1002","volume":"36","author":[{"given":"Aude","family":"Tessier","sequence":"first","affiliation":[{"name":"Department of Genetics Rouen University Hospital and Inserm U1079, Faculty of Medicine, Normandy Centre for Genomic and Personalized Medicine  Rouen France"},{"name":"Department of Pathology Rouen University Hospital  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e9lie","family":"Sarreau","sequence":"additional","affiliation":[{"name":"Department of Gynecology and Obstetrics Angoul\u00eame Hospital  Angoul\u00eame France"},{"name":"Prenatal Diagnosis Unit Poitiers University Hospital  Poitiers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fanny","family":"Pelluard","sequence":"additional","affiliation":[{"name":"Department of Pathology Bordeaux University Hospital  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gwenaelle","family":"Andr\u00e9","sequence":"additional","affiliation":[{"name":"Department of Pathology Bordeaux University Hospital  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Blesson","sequence":"additional","affiliation":[{"name":"Department of Genetics Bretonneau University Hospital  Tours France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine","family":"Bucourt","sequence":"additional","affiliation":[{"name":"Department of Pathology Jean Verdier Hospital, APHP  Bondy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Dechelotte","sequence":"additional","affiliation":[{"name":"Fetal Medicine Unit Clermont\u2010Ferrand University Hospital  Clermont\u2010Ferrand France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Faivre","sequence":"additional","affiliation":[{"name":"Department of Genetics, FHU\u2010TRANSLAD University Hospital of Dijon  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Fr\u00e9bourg","sequence":"additional","affiliation":[{"name":"Department of Genetics Rouen University Hospital and Inserm U1079, Faculty of Medicine, Normandy Centre for Genomic and Personalized Medicine  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Goldenberg","sequence":"additional","affiliation":[{"name":"Department of Genetics Rouen University Hospital and Inserm U1079, Faculty of Medicine, Normandy Centre for Genomic and Personalized Medicine  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Goua","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Unit Poitiers University Hospital  Poitiers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Jeanne\u2010Pasquier","sequence":"additional","affiliation":[{"name":"Department of Pathology Caen University Hospital  Caen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabien","family":"Guimiot","sequence":"additional","affiliation":[{"name":"Department of Developmental Biology, UMR1141 Robert Debr\u00e9 University Hospital and Paris Diderot University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annie","family":"Laquerriere","sequence":"additional","affiliation":[{"name":"Department of Pathology Rouen University Hospital  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Laurent","sequence":"additional","affiliation":[{"name":"Department of Pathology Dijon University Hospital  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathilde","family":"Lefebvre","sequence":"additional","affiliation":[{"name":"Department of Genetics, FHU\u2010TRANSLAD University Hospital of Dijon  Dijon France"},{"name":"Department of Pathology Dijon University Hospital  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Loget","sequence":"additional","affiliation":[{"name":"Department of Pathology Rennes University Hospital  Rennes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine","family":"Mar\u00e9chaud","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Unit Poitiers University Hospital  Poitiers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Mechler","sequence":"additional","affiliation":[{"name":"Department of Pathology, Louis Mourier Hospital APHP  Colombes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Jos\u00e9e","family":"Perez","sequence":"additional","affiliation":[{"name":"Department of Genetics Montpellier Arnaud de Villeneuve University Hospital  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean Christophe","family":"Sabourin","sequence":"additional","affiliation":[{"name":"Department of Pathology Rouen University Hospital  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Verloes","sequence":"additional","affiliation":[{"name":"Department of Genetics Robert\u2010Debr\u00e9 University Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Patrier","sequence":"additional","affiliation":[{"name":"Department of Pathology Rouen University Hospital  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne\u2010Marie","family":"Guerrot","sequence":"additional","affiliation":[{"name":"Department of Genetics Rouen University Hospital and Inserm U1079, Faculty of Medicine, Normandy Centre for Genomic and Personalized Medicine  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,12,9]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1962.tb01774.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35839"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1142"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1549"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100590"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32440"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000907"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201008173"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1080\/15216540701510581"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1292"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb03539.x"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi262"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250111"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31951"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320435"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360421"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.769"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.1905"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970050307"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199706)17:6<582::AID-PD107>3.0.CO;2-Y"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-3468(94)90331-X"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310119"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370433"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-9260(05)82156-7"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb03484.x"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.1950140212"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520407"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199909)19:9<856::AID-PD628>3.0.CO;2-X"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-0705.2001.00374.x"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.381"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31426"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1774"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32091"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.4103\/0974-620X.83661"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.02.031"},{"issue":"4","key":"e_1_2_6_37_1","first-page":"367","article-title":"Congenital High Airway Obstruction Syndrome (CHAOS) as part of Fraser syndrome: ultrasound and autopsy findings","volume":"24","author":"Mesens T","year":"2013","journal-title":"Genet Couns Geneva Switz"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36343"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2011.089631"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0402760101"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.4971","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.4971","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.4971","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T10:21:16Z","timestamp":1696328476000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.4971"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,12]]},"references-count":39,"journal-issue":{"issue":"13","published-print":{"date-parts":[[2016,12]]}},"alternative-id":["10.1002\/pd.4971"],"URL":"https:\/\/doi.org\/10.1002\/pd.4971","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,12]]}}}