{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T09:42:14Z","timestamp":1789810934309,"version":"4.0.1"},"reference-count":11,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4628,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We studied 2 sibs, born to consanguineous parents, who presented with an MCA pattern which includes low birthweight, tracheo\u2010esophageal fistula, duodenal atresia, extrahepatic biliary atresia, hypoplastic pancreas, and hypospadias. This constellation of congenital anomalies appears to be a previously unreported autosomal recessive syndrome. A computerized search of the data files of the Spanish Collaborative Study of Congenital Malformations (ECEMC) identified 3 other unrelated infants with intestinal atresias, hypospadias, and low birth weight. These cases may represent a milder expression of the same syndrome. \u00a9 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320440316","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:21:52Z","timestamp":1118506912000},"page":"352-355","source":"Crossref","is-referenced-by-count":35,"title":["Tracheoesophageal fistula, gastrointestinal abnormalities, hypospadias, and prenatal growth deficiency"],"prefix":"10.1002","volume":"44","author":[{"given":"Mar\u00eda\u2010Luisa","family":"Mart\u00ednez\u2010Fr\u00edas","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaime L.","family":"Fr\u00edas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrique","family":"Gal\u00e1n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosario","family":"Domingo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis","family":"Pais\u00e1n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel","family":"Blanco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310319"},{"key":"e_1_2_1_3_1","doi-asserted-by":"crossref","unstructured":"ArroyoI Garc\u00edaMJ CimadevillaCE CarreteroV BermejoE Mart\u00ednez\u2010Fr\u00edasML(1992): Bilateral anophthalmia esophageal atresia and right cryptorchidism: A new entity?Am J Med Genet in press.","DOI":"10.1002\/ajmg.1320430406"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.6.389"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320210104"},{"issue":"1","key":"e_1_2_1_6_1","first-page":"16","article-title":"MicrocephalY, tracheoesophageal fistula, hand defect","volume":"3","author":"Feingold","year":"1975","journal-title":"Synd Ident"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350123"},{"key":"e_1_2_1_8_1","unstructured":"Mart\u00ednez\u2010Fr\u00edasML BermejoE(1992): Prevalence of multiple congenital anomalies (MCA) syndromes in a Spanish Gypsy population.J Med Genet in press."},{"issue":"2","key":"e_1_2_1_9_1","first-page":"86","article-title":"The G syndrome of multiple congenital anomalies","author":"Opitz J","year":"1969","journal-title":"BD:OAS"},{"key":"e_1_2_1_10_1","first-page":"57","article-title":"Unknown case","volume":"7","author":"Rogers RC","year":"1988","journal-title":"Proc Greenwood Genet Center"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.11.688"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.3.157"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320440316","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320440316","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T01:40:33Z","timestamp":1698111633000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320440316"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,10]]},"references-count":11,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1992,10]]}},"alternative-id":["10.1002\/ajmg.1320440316"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320440316","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,10]]}}}