{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T18:14:12Z","timestamp":1761156852518,"version":"3.40.5"},"reference-count":32,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,2,29]],"date-time":"2020-02-29T00:00:00Z","timestamp":1582934400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003074","name":"Agencia Nacional de Promoci\u00f3n Cient\u00edfica y Tecnol\u00f3gica","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003074","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003033","name":"Ministerio de Ciencia, Tecnolog\u00eda e Innovaci\u00f3n Productiva","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003033","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003285","name":"Ministerio de Salud de la Naci\u00f3n","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003285","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006641","name":"UNICEF","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006641","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The objectives of this study were to describe the birth prevalence of limb reduction defects (LRD) in Argentina, their clinical features, and to review the literature on this topic. The data source was the National Network of Congenital Anomalies of Argentina, a surveillance system that has been operative since 2009. Data were collected from November 1, 2009 to December 31, 2016. 1,663,610 births and 702 affected patients were registered during this period. The prevalence of LRD was 4.22\/10,000 births (CI 95%: 3.93\u20134.54). In 15,094 stillbirths, prevalence was 30.80\/10,000 (CI 95%: 22.31\u201340.65). Perinatal mortality (stillbirths plus early neonatal deaths) was 24.6%, mostly explained by postnatal deaths. LRD were classified according to different variables, including Gold's anatomic classification. Then, 41.0% of patients had transverse terminal defects and 50.2% had longitudinal defects. We found multiple and syndromic clinical presentation to be associated with both preaxial LRD and lethality. The prevalence of LRD was lower and perinatal mortality was higher in our study compared to that of previously published studies. Because there is heterogeneity in the inclusion and exclusion criteria among publications, a greater effort should be made in order to include similar populations and to use a unified anatomic classification and nomenclature.<\/jats:p>","DOI":"10.1002\/ajmg.a.61528","type":"journal-article","created":{"date-parts":[[2020,2,29]],"date-time":"2020-02-29T11:49:16Z","timestamp":1582976956000},"page":"1084-1092","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Congenital limb reduction defects in 1.6 million births in Argentina"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5409-1014","authenticated-orcid":false,"given":"Guillermo","family":"Alberto","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics, National Center of Medical Genetics (CNGM) National Administration of Laboratories and Health Institutes (ANLIS), National Ministry of Health  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pablo","family":"Barbero","sequence":"additional","affiliation":[{"name":"National Network of Congenital Anomalies of Argentina (RENAC) National Center of Medical Genetics (CNGM), National Administration of Laboratories and Health Institutes (ANLIS), National Ministry of Health  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosa","family":"Liascovich","sequence":"additional","affiliation":[{"name":"National Network of Congenital Anomalies of Argentina (RENAC) National Center of Medical Genetics (CNGM), National Administration of Laboratories and Health Institutes (ANLIS), National Ministry of Health  Buenos Aires Argentina"},{"name":"National Scientific and Technical Research Council (CONICET)  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Paz","family":"Bidondo","sequence":"additional","affiliation":[{"name":"National Network of Congenital Anomalies of Argentina (RENAC) National Center of Medical Genetics (CNGM), National Administration of Laboratories and Health Institutes (ANLIS), National Ministry of Health  Buenos Aires Argentina"},{"name":"Department of Cellular Biology, Histology, Embryology and Genetics, Medicine College University of Buenos Aires (UBA)  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Boris","family":"Groisman","sequence":"additional","affiliation":[{"name":"National Network of Congenital Anomalies of Argentina (RENAC) National Center of Medical Genetics (CNGM), National Administration of Laboratories and Health Institutes (ANLIS), National Ministry of Health  Buenos Aires Argentina"},{"name":"National Scientific and Technical Research Council (CONICET)  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,2,29]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38513"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37240"},{"issue":"4","key":"e_1_2_9_4_1","first-page":"295","article-title":"Estudio de prevalencia y letalidad neonatal en pacientes con anomal\u00edas cong\u00e9nitas seleccionadas con datos del Registro Nacional de Anomal\u00edas Cong\u00e9nitas de Argentina","volume":"113","author":"Bidondo M. 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Limb reduction defects\u20141984 to 2017\u2014All full registries\u2014Include genetic anomalies.https:\/\/eu-rd-platform.jrc.ec.europa.eu\/eurocat\/eurocat-data\/prevalence"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320490111"},{"issue":"11","key":"e_1_2_9_12_1","first-page":"242","article-title":"Descriptive epidemiology of limb reduction deformities in Hawaii, 1986\u20102000","volume":"62","author":"Forrester M. B.","year":"2003","journal-title":"Hawaii Medical Journal"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420390205"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33999"},{"issue":"6","key":"e_1_2_9_15_1","first-page":"484","article-title":"RENAC: Registro Nacional de Anomal\u00edas Cong\u00e9nitas de Argentina","volume":"111","author":"Groisman B.","year":"2013","journal-title":"Archivos Argentinos de Pediatr\u00eda"},{"key":"e_1_2_9_16_1","unstructured":"Groisman B. Duarte S. Gili J.A Bidondo M.P. Pauselli N. Cassinelli A. \u2026 Liascovich R.(2016). Registro Nacional de Anomal\u00edas Cong\u00e9nitas de Argentina. Reporte anual RENAC 2016. An\u00e1lisis epidemiol\u00f3gico de las anomal\u00edas cong\u00e9nitas en reci\u00e9n nacidos registradas en el a\u00f1o 2015 en la Rep\u00fablica Argentina. Buenos Aires: Ministerio de Salud de la Naci\u00f3n 2016. Retrieved fromhttp:\/\/www.msal.gob.ar\/images\/stories\/bes\/graficos\/0000000924cnt-reporte_renac_2016.pdf"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10781"},{"key":"e_1_2_9_18_1","unstructured":"International Clearinghouse Birth Defect Research Surveillance.2014. 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