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Boletín del ECEMC: Revista de Dismorfología y Epidemiología 2006; Serie V Nº 5 

Sumario de Boletín del ECEMC: Revista de Dismorfología y Epidemiología 2006; Serie V Nº 5

Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2006 - Serie V Nº 5 

Número completo de: Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2006 - Serie V Nº 5

Revisión: Aspectos clínicos y genéticos de las hamartoneoplasias que pueden ser diagnosticadas en los tres primeros días de vida 

The hamartoneoplastic syndromes are an heterogeneous group of diseases characterized by their risk to develop malignant tumors among other clinical features that vary from one syndrome to another. Most of these pathologies also share endocrinological abnormalities and sometimes, genetic character...

Monosomía parcial 10p en un caso con fenotipo similar al síndrome de Ritscher-Schinzel 

Monosomy 10p is a rare chromosomal anomaly having quite variable clinical expression, showing in some patients the DiGeorge anomaly. Here we report a malformed newborn, whose high resolution G-band karyotype showed an abnormal short arm of chromosome 10 (10p). Fluorescence in situ hybridization (...

Integración de los aspectos clínicos en el análisis epidemiológico de los recién nacidos con defectos congénitos registrados en el ECEMC: 30 años preparándonos para el futuro 

An epidemiological analysis of the main clinical aspects of the infants with congenital defects registered by the ECEMC (Spanish Collaborative Study of Congenital Malformations) between 1980 and 2005, has been performed. It is remarkable that the ECEMC programme is defined, as stated in its Opera...

Síndromes muy poco frecuentes 

Since the year 2002, this Section of the Boletín del ECEMC: Revista de Dismorfología y Epidemiología, is dedicated to dysmorphology, cytogenetics and clinical analysis of congenital anomalies, and includes a chapter on syndromes with very low frequency. The aim of this chapter is to summarize the...

Análisis de la utilización de medicamentos y otros datos demográficos en la población inmigrante (período 2000-2004) 

Objective: To detect significant variations in variables related to the care of gestation between the immigrant and autochthonous pregnant women in Spain. Material and Methods: Data come from the Spanish Collaborative Study of Congenital Malformations (ECEMC), an ongoing hospitalbased case-contr...

Vigilancia epidemiológica de anomalías congénitas en España: treinta años de existencia del registro del ECEMC 

In this chapter, the most recent results from the main analyses of epidemiological surveillance carried out systematically in the ECEMC are shown. There has not been any remarkable change with respect to the results of the analyses performed in 2005. The decrease in the neonatal prevalence of the...

Síndrome de intervalo QT largo congénito 

The long QT syndrome (LQTS) is an hereditary disease that produces a malfunction on the sodium and potassium channels of the heart and lengthens the duration of the cardiac repolarization stage. It is characterized by the appearance of syncopes, arrhythmias and even sudden death. There are two va...

Resultados de la actividad de los Servicios SITTE y SITE durante el año 2005 y análisis de las llamadas por etnia materna 

We present a summary of the activity of the two Teratology Information Services: SITTE (for health professionals) and SITE (for the general population) during 2005. The total number of calls received in both services was 5,385 (953 of them by the SITTE and 4,432 by the SITE). As in the last years...