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dc.contributor.authorMartínez-Frías, María Luisa 
dc.contributor.authorCuevas Catalina, María Lourdes 
dc.contributor.authorGrupo Periférico del ECEMC
dc.contributor.authorBermejo-Sanchez, Eva
dc.identifier.citationBoletín del ECEMC: Rev Dismor Epidemiol 2011; VI (nº 1): 33-64es_ES
dc.descriptionDismorfología y Genética Clínicaes_ES
dc.description.abstractIt 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).es_ES
dc.publisherInstituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER)es_ES
dc.subjectDefectos congénitoses_ES
dc.subjectGrupo étnicoes_ES
dc.subjectClinical-epidemiological analysises_ES
dc.subjectCongenital defectses_ES
dc.subjectEthnic groupes_ES
dc.titleAnálisis clínico-epidemiológico de los recién nacidos con defectos congénitos registrados en el ECEMC: Distribución por etiología y por grupos étnicoses_ES
dc.title.alternativeClinical-epidemiological analysis of the newborn infants with congenital defects registered by ECEMC: Distribution by etiology and ethnic groups.es_ES
dc.typejournal articlees_ES
dc.rights.licenseAtribución-NoComercial-CompartirIgual 4.0 Internacional*
dc.identifier.journalBoletín del ECEMC: Revista de Dismorfología y Epidemiologíaes_ES
dc.rights.accessRightsopen accesses_ES

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Atribución-NoComercial-CompartirIgual 4.0 Internacional
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