{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:21:28Z","timestamp":1747146088807,"version":"3.40.5"},"reference-count":21,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2018,10,17]],"date-time":"2018-10-17T00:00:00Z","timestamp":1539734400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:p>Trisomy 13 or Patau syndrome (PS) is a well\u2010known aneuploidy characterized by a polymalformative syndrome. We described a large series of fetuses with PS and compared them with cases described in the literature, most of which were live\u2010born. In all, 42 fetuses, aged from 14 to 41 gestational weeks (GW), were examined. The main defects observed were similar to those described in live\u2010born patients: congenital heart defects (76%), holoprosencephaly spectrum anomalies including arhinencephaly and hypotelorism (74%), urinary tract anomalies (71%), ear anomalies (69%), postaxial polydactyly (67%), anogenital anomalies (60%), anophthalmos, and\/or microphthalmos (53%), brachycephaly (45%), and oro\u2010facial clefts (45%). A duplication or triplication of at least one distal phalanx of the thumb or hallux was present in 38% of fetuses. This sign has only been reported previously in one patient in the literature. Fetal examination in trisomy 13, is thus, useful to complete the phenotype or to orient diagnosis toward trisomy 13 in the absence of cytogenetic analysis.<\/jats:p>","DOI":"10.1002\/ajmg.a.40505","type":"journal-article","created":{"date-parts":[[2018,10,17]],"date-time":"2018-10-17T09:54:06Z","timestamp":1539770046000},"page":"2325-2330","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2281-7786","authenticated-orcid":false,"given":"Pascaline","family":"L\u00e9tard","sequence":"first","affiliation":[{"name":"Unit\u00e9 fonctionnelle de f\u0153topathologie, D\u00e9partement de g\u00e9n\u00e9tique CHU Robert Debr\u00e9, Assistance Publique \u2010 H\u00f4pitaux de Paris Paris France"},{"name":"INSERM, UMR1141 PROTECT Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9 Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabien","family":"Guimiot","sequence":"additional","affiliation":[{"name":"Unit\u00e9 fonctionnelle de f\u0153topathologie, D\u00e9partement de g\u00e9n\u00e9tique CHU Robert Debr\u00e9, Assistance Publique \u2010 H\u00f4pitaux de Paris Paris France"},{"name":"INSERM, UMR1141 PROTECT Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9 Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e9line","family":"Dupont","sequence":"additional","affiliation":[{"name":"Unit\u00e9 fonctionnelle de cytog\u00e9n\u00e9tique, D\u00e9partement de g\u00e9n\u00e9tique CHU Robert Debr\u00e9, Assistance Publique \u2010 H\u00f4pitaux de Paris Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan","family":"Rosenblatt","sequence":"additional","affiliation":[{"name":"Service de gyn\u00e9cologie\u2010obst\u00e9trique CHU Robert Debr\u00e9, Assistance Publique \u2010 H\u00f4pitaux de Paris Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne\u2010Lise","family":"Delezoide","sequence":"additional","affiliation":[{"name":"Unit\u00e9 fonctionnelle de f\u0153topathologie, D\u00e9partement de g\u00e9n\u00e9tique CHU Robert Debr\u00e9, Assistance Publique \u2010 H\u00f4pitaux de Paris Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suonavy","family":"Khung\u2010Savatovsky","sequence":"additional","affiliation":[{"name":"Unit\u00e9 fonctionnelle de f\u0153topathologie, D\u00e9partement de g\u00e9n\u00e9tique CHU Robert Debr\u00e9, Assistance Publique \u2010 H\u00f4pitaux de Paris Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,10,17]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35337"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320490204"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450115"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1028-4559(10)60002-2"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.915"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420410215"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-7-27"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.15.1.48"},{"key":"e_1_2_6_10_1","first-page":"18","volume-title":"Smith's recognizable patterns of human malformations","author":"Jones K. 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