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dc.contributor.authorMartínez-Frías, María Luisa 
dc.contributor.authorAparicio, Pilar 
dc.contributor.authorArroyo, I
dc.contributor.authorAyala, Alba 
dc.contributor.authorBlanco, M
dc.contributor.authorCastro, S
dc.contributor.authorCucalón, F
dc.contributor.authorEgüés, J
dc.contributor.authorFélix, V
dc.contributor.authorGaliano, J
dc.contributor.authorGarcía, A
dc.contributor.authorGómez-Ullate, J
dc.contributor.authorGonzález de Dios, J
dc.contributor.authorJiménez, N
dc.contributor.authorJuliani, J
dc.contributor.authorLara, A
dc.contributor.authorNieto, C
dc.contributor.authorPaisán, L
dc.contributor.authorRosa, A
dc.contributor.authorVázquez, MS
dc.identifier.citationBoletín del ECEMC: Rev Dismor Epidemiol 2003; V (nº 2): 44-50es_ES
dc.descriptionEpidemiología y Teratología: Resultados sobre los datos del ECEMCes_ES
dc.description.abstractApert and Crouzon syndromes are the most frequent ones among those syndromes with craniosynostosis. We have used data from the Spanish Collaborative Study of Congenital Malformations (ECEMC), to analyze some clinical and epidemiological characteristics of both syndromes. A total of 19 cases of Apert and 21 cases of Crouzon syndromes were identified among 1,914,726 liveborn infants. Their birth prevalence has diminished along the time although the decrease is only statistically significant for Crouzon syndrome. Mean parental ages, and mean differences between the parental ages, are significantly higher in Apert cases than in controls, what is indicating a relationship between paternal age and mutations for this syndrome. The differences between the parental ages of Crouzon cases and controls are not statistically significant. All the cases with Apert syndrome of our series were the first occurrence in the family, while 38.10% of the Crouzon cases were familial. We also observed a significant increasing linear trend in the frequency of infants with Apert syndrome, with the increasing paternal age, which is more noticeable since the age of 35 years. However, this is not observed for Crouzon cases whether sporadic or familial. Regarding the clinical aspects, Apert syndrome is more frequently associated to other defects than Crouzon syndrome. With respect to the affectation of hands in the Apert cases, the most frequent defect was the so-called "mitten hand", wich was present in 50% of our cases. In 28.57% the first finger was separated from the rest that are fused. Interestingly, in one case only the fifth finger was separated for the other four that remain fused.es_ES
dc.publisherInstituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER) es_ES
dc.subjectAnomalías congénitases_ES
dc.titleAspectos clínicos y epidemiológicos de los síndromes de Apert y Crouzon en Españaes_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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