Sumario de 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

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 step...

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 majo...

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 de...

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 syndr...

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 their ...

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, aimed...

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 identification...

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 called ...