{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T02:05:45Z","timestamp":1780106745770,"version":"3.54.0"},"reference-count":27,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2002,8,6]],"date-time":"2002-08-06T00:00:00Z","timestamp":1028592000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present two unrelated patients with various duplications in the caudal region. One patient presented with a duplication of the distal spine from L4, left double ureter, duplication of the vagina and cervix, and duplication of the distal colon. The second patient was diagnosed with a duplication of the colon, bladder, vagina and uterus. The first patient had an unaffected monozygotic twin sister. Dominguez et al. [<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#bib5\">1993<\/jats:ext-link>: Am J Dis Child 147:1048\u20131052] presented six similar cases, and introduced the name \u201ccaudal duplication syndrome.\u201d The pathogenesis of the caudal duplication anomaly is unclear. The possibility of a polytopic primary developmental field defect or a disruptive sequence are discussed. On the other hand, somatic or germline mutations in certain developmental genes could be involved, as illustrated by the mouse mutations disorganisation and fused. DNA\u2010analysis of the <jats:italic>AXIN1<\/jats:italic> gene, the human homologue of the gene responsible for fused, performed in our first patient, did not show any apparent pathogenic mutation. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10594","type":"journal-article","created":{"date-parts":[[2002,10,11]],"date-time":"2002-10-11T22:29:21Z","timestamp":1034375361000},"page":"390-393","source":"Crossref","is-referenced-by-count":22,"title":["Two cases of the caudal duplication anomaly including a discordant monozygotic twin"],"prefix":"10.1002","volume":"112","author":[{"given":"H.Y.","family":"Kroes","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.J.","family":"Zijlstra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.A.L.L.","family":"Baert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.A.","family":"Kooi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.M.W.","family":"Hofstra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.J.","family":"van Essen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,8,6]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/PL00007301"},{"key":"e_1_2_6_3_1","first-page":"81","article-title":"Gros intestin duplex chez un enfant nouveau","volume":"2","author":"Bar P","year":"1909","journal-title":"L'Obst\u00e9trique"},{"key":"e_1_2_6_4_1","first-page":"405","article-title":"Duplication of the primitive hindgut of the human being: an 8\u2010year follow\u2010up of a previous case report","volume":"66","author":"Beach PD","year":"1969","journal-title":"Surgery"},{"issue":"14","key":"e_1_2_6_5_1","first-page":"253","article-title":"The OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects)","author":"Carey JC","year":"1978","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_6_6_1","first-page":"1048","article-title":"Caudal duplication syndrome","volume":"147","author":"Dominguez R","year":"1993","journal-title":"Am J Dis Child"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1464-410X.1974.tb03859.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0090-4295(99)00470-7"},{"key":"e_1_2_6_9_1","first-page":"212","article-title":"Developmental anomalies in mice resulting from action of the gene disorganization, a semidominant lethal","volume":"23","author":"Hummel KP","year":"1959","journal-title":"Pediatrics"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s100380070036"},{"key":"e_1_2_6_11_1","doi-asserted-by":"crossref","DOI":"10.1093\/oso\/9780198548690.001.0001","volume-title":"Genetics variants and strains of the laboratory mouse","author":"Lyon MF","year":"1996"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970502)70:1<11::AID-AJMG3>3.0.CO;2-U"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990305)83:1<13::AID-AJMG4>3.0.CO;2-X"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1210"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1007141228452"},{"issue":"1","key":"e_1_2_6_16_1","first-page":"3","article-title":"Blastogenesis and the \u201cprimary field\u201d in human development","author":"Opitz JM","year":"1993","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000658-195305000-00002"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(05)67602-1"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/73448"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80278-4"},{"key":"e_1_2_6_21_1","article-title":"Die Morphologie der Missbildungen des Menschen und der Tiere. 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