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Boletín del ECEMC: Revista de Dismorfología y Epidemiología 2007; Serie V Nº 6 

Sumario de Boletín del ECEMC: Revista de Dismorfología y Epidemiología 2007; Serie V Nº 6

Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2007 - Serie V Nº 6 

Número completo de: Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2007 - Serie V Nº 6

Síndrome de Smith-Lemli-Opitz 

The Smith-Lemli-Opitz syndrome is an autosomal recessive multiple congenital anomaly/mental retardation pattern caused by an inborn error of cholesterol metabolism. Deficient cholesterol synthesis is caused by inherited mutations of 7-dehydrocholesterol reductase gene, that catalyzes the final st...

Deleción parcial 5p y duplicación parcial 5q derivadas de una inversión pericéntrica familiar 

During the meiotic process, most of the structural balanced chromosome alterations will affect either the specific chromosome pairing, or the chromosome and cromatides segregation, due to the number and type of chiasmata of the chromosomes implicated in those balanced rearrangements. Thus, the ma...

Aspectos clínicos y distribución etiológica de los recién nacidos con defectos congénitos registrados en el ECEMC 

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 2006, has been performed. Among a total of 2,254,439 newborn surveyed, 35,246 (1.56%), had congenital ...

Síndromes muy poco frecuentes 

The aim of this chapter is to summarize updated knowledge about the clinical characteristics, etiology, genetic and molecular aspects, as well as mechanisms involved in syndromes having very low frequency, in order to promote their better recognition. During the last five years, a total of 30 syn...

Vitamina A y embarazo: Revisión de la literatura y estimación del riesgo teratogénico 

Vitamin A plays a key role in many essential biological processes, such as the embryonic development, regulation of proliferation and diferentiation of many cell types. The present article reviews the biochemistry, metabolism and mode of action of retinoides (including vitamin A), as well as thei...

Vigilancia epidemiológica de anomalías congénitas en España: Análisis de los datos del ECEMC en el período 1980-2006 

This chapter summarizes the main results of the current epidemiological surveillance of congenital anomalies performed in the Spanish Collaborative Study of Congenital Malformations (ECEMC). This is a research programme developed as a hospital-based case-control study and surveillance system, aim...

El Genoma Humano. Un Sistema Altamente Complejo 

Since the completion of the sequence of the human genome, knowledge of the structure and function of DNA is growing dramatically. However, at the same time, studies are showing an impressive complexity in the structural and functional aspects of DNA. One of the first findings was the identificati...

Resultados de la actividad de los Servicios de Información sobre Teratógenos (SITTE y SITE) durante el año 2006 y análisis de la edad materna y del número de embarazos planeados 

We present a summary of the activity of the two Teratology Information Services: SITTE (for health professionals) and SITE (for the general population) during 2006. We also include a comparative analysis on maternal age and number of planned pregnancies between the population of mothers who calle...