<?xml version="1.0" encoding="UTF-8"?><?xml-stylesheet type="text/xsl" href="static/style.xsl"?><OAI-PMH xmlns="http://www.openarchives.org/OAI/2.0/" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xsi:schemaLocation="http://www.openarchives.org/OAI/2.0/ http://www.openarchives.org/OAI/2.0/OAI-PMH.xsd"><responseDate>2026-06-14T03:42:43Z</responseDate><request verb="GetRecord" identifier="oai:repisalud.isciii.es:20.500.12105/14086" metadataPrefix="marc">https://repisalud.isciii.es/rest/oai/request</request><GetRecord><record><header><identifier>oai:repisalud.isciii.es:20.500.12105/14086</identifier><datestamp>2025-06-04T06:55:43Z</datestamp><setSpec>com_20.500.12105_5571</setSpec><setSpec>com_20.500.12105_2404</setSpec><setSpec>com_20.500.12105_2403</setSpec><setSpec>col_20.500.12105_5716</setSpec></header><metadata><record xmlns="http://www.loc.gov/MARC21/slim" xmlns:dcterms="http://purl.org/dc/terms/" xmlns:doc="http://www.lyncode.com/xoai" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xsi:schemaLocation="http://www.loc.gov/MARC21/slim http://www.loc.gov/standards/marcxml/schema/MARC21slim.xsd">
   <leader>00925njm 22002777a 4500</leader>
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      <subfield code="a">dc</subfield>
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   <datafield ind2=" " ind1=" " tag="720">
      <subfield code="a">Martínez-Frías, María Luisa</subfield>
      <subfield code="e">author</subfield>
   </datafield>
   <datafield ind2=" " ind1=" " tag="720">
      <subfield code="a">Cuevas Catalina, María Lourdes</subfield>
      <subfield code="e">author</subfield>
   </datafield>
   <datafield ind2=" " ind1=" " tag="720">
      <subfield code="a">Grupo Periférico del ECEMC</subfield>
      <subfield code="e">author</subfield>
   </datafield>
   <datafield ind2=" " ind1=" " tag="720">
      <subfield code="a">Bermejo-Sanchez, Eva</subfield>
      <subfield code="e">author</subfield>
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   <datafield ind2=" " ind1=" " tag="260">
      <subfield code="c">2011-12</subfield>
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   <datafield ind2=" " ind1=" " tag="520">
      <subfield code="a">It is presented here the analysis of the main clinical aspects of the infants with congenital defects registered by ECEMC (Spanish Collaborative Study of Congenital Malformations) between 1980 and 2010. Among a total of 2,648,286 newborns surveyed, 39,434 (1.49%) had congenital defects detected during the first 3 days of life. This group of infants with congenital anomalies was distributed according to the clinical presentation of their defects as isolated (73.94%), multiply malformed (13.53%), and syndromes (12.53%). The etiologic distribution of infants with congenital anomalies in the ECEMC showed a 20.47% of genetic cause, 20.28% multifactorial, 1.35% produced by environmental causes, and the etiology of the defects was unknown in the remaining 57.90%. The secular distribution of the 3 main groups of clinical presentation (isolated, multiply malformed and syndromes) was studied and all of them showed a decreasing trend along the years, probably as a consequence of the impact of the interruption of pregnancy of some affected foetuses. The different types of syndromes identified and their minimal frequency values are also presented, separated by type of cause (Tables 4-10). Finally, the proportion of cases with birth defects by ethnic groups, first including (Graph 8) and then excluding (Graph 9) two groups of whites, the autochthones and the immigrant whites group. Due to the small samples in most non-white groups, the differences are not statistically significant, except for a significant higher frequency among Gypsies than in the white groups (both native and foreigner), the black group, and the one of Other (including mix groups).</subfield>
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   <datafield ind1="8" ind2=" " tag="024">
      <subfield code="a">Boletín del ECEMC: Rev Dismor Epidemiol 2011; VI (nº 1): 33-64</subfield>
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   <datafield ind1="8" ind2=" " tag="024">
      <subfield code="a">0210–3893</subfield>
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   <datafield ind1="8" ind2=" " tag="024">
      <subfield code="a">Boletín del ECEMC: Revista de Dismorfología y Epidemiología</subfield>
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      <subfield code="a">http://hdl.handle.net/20.500.12105/14086</subfield>
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   <datafield tag="653" ind2=" " ind1=" ">
      <subfield code="a">ECEMC</subfield>
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   <datafield tag="653" ind2=" " ind1=" ">
      <subfield code="a">Defectos congénitos</subfield>
   </datafield>
   <datafield tag="653" ind2=" " ind1=" ">
      <subfield code="a">Etiología</subfield>
   </datafield>
   <datafield tag="653" ind2=" " ind1=" ">
      <subfield code="a">Grupo étnico</subfield>
   </datafield>
   <datafield tag="653" ind2=" " ind1=" ">
      <subfield code="a">Clinical-epidemiological analysis</subfield>
   </datafield>
   <datafield tag="653" ind2=" " ind1=" ">
      <subfield code="a">Congenital defects</subfield>
   </datafield>
   <datafield tag="653" ind2=" " ind1=" ">
      <subfield code="a">Etiology</subfield>
   </datafield>
   <datafield tag="653" ind2=" " ind1=" ">
      <subfield code="a">Ethnic group</subfield>
   </datafield>
   <datafield ind2="0" ind1="0" tag="245">
      <subfield code="a">Análisis clínico-epidemiológico de los recién nacidos con defectos congénitos registrados en el ECEMC: Distribución por etiología y por grupos étnicos</subfield>
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