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Boletín del ECEMC: Revista de Dismorfología y Epidemiología 2003; Serie V Nº 2 

Sumario de Boletín del ECEMC: Revista de Dismorfología y Epidemiología 2003; Serie V Nº 2

Anomalía de Möebius y el concepto de secuencia malformativa: Importancia del conocimiento y uso adecuado de la terminología 

A review of the literature shows that a large variety of terms is used to refer to the Möebius anomaly. These include diagnoses such as "Möebius syndrome", "Möebius sequence", "Möebius spectrum", "Möebius syndrome-limb abnormalities" "Möebius sequence-hypogeni- talism-cerebral, and skeletal malform...

Monosomía 1p36: Un síndrome clínicamente reconocible 

Pure 1p36 deletion is considered a new delineated syndrome that probably is a contiguous gene syndrome, presenting a pattern of clinical manifestation that may be recognizable. This includes moderate to severe psychomotor retardation, hypotonia, microcephaly, postnatal growth retardation, seizures ...

Aspectos Clínico-Epidemiológicos de los recién nacidos con anomalías congénitas 

We have used the data gathered by the Spanish Collaborative Study of Congenital Malformations (ECEMC) during the period 1980-2002, in order to epidemiologically analyze some clinical aspects of a consecutive series of malformed newborn infants. Among a total of 1,838,654 newborns surveyed, 30,531 (...

Síndromes muy poco frecuentes 

This section is based on two facts: First, that the majority of the malformation syndromes are very few frequent. Second, the progressive generalization in our country of the prenatal diagnosis with a high resolution echography performed to all women between 18-20 weeks of gestation as a Service of...

Evolución de ciertas características demográficas de las madres de niños sin defectos congénitos a lo largo de los últimos 26 años y por Comunidades Autónomas 

In this study we analyzed the evolution of maternal age along time (the last 26 years) and by Spanish Regions. We also estimated the sex ratio by each year of maternal age in the first pregnancy and in women with more than one previous pregnancy. The results showed that in all Spanish Regions, with...

Aspectos clínicos y epidemiológicos de los síndromes de Apert y Crouzon en España 

Apert 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 Aper...

Vigilancia Epidemiológica de Anomalías Congénitas en España en los últimos 23 años (periodo 1980-2001) 

We have analysed data from the ECEMC database, gathered in the period 1980-2002, during which a total of 1,838,654 newborn infants were surveyed. The ECEMC programme covered 25.6% of total births occurred in Spain in 2001. We have calculated the global frequency of infants with congenital anomalies...

Resultados de las llamadas recibidas por el Servicio de Información Telefonica sobre Teratogenos Español (SITTE) y por el Servicio de Informacion Telefónica para la Embarazada (SITE) durante el año 2002 

We present the results of the Spanish Teratology Information Services (SITTE addressed to health professionals and SITE addressed to the general population) during 2002. The total number of calls received in both services was 5,587 (1,416 of them by the SITTE and 4,171 by the SITE). As in the last ...