Sumario de Boletín del ECEMC: Revista de Dismorfología y Epidemiología 2010; Serie V Nº 9

Número completo de: Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2010 - Serie V Nº 9

Coffi n-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation, which is characterized in male patients by psychomotor delay and growth retardation, large soft hands with distally tapering fi ngers, and other skeletal anomalies. Characteristic features change and become more marked...

The mouse mutant disorganization (Ds) is an autosomal dominant gene which is lethal in homozygosis, with complete penetrance in heterozygosis. Its expression exhibits an exceptional variety of unusual developmental anomalies in structures derived from various germ layers. Several patients with simi...

Supernumerary or accessory nostrils are a very rare type of congenital nasal anomaly, with only a few cases reported in the literature. They can be associated with other malformations such as cleft palate and they can be unilateral or bilateral, with most cases reported being unilateral. The access...

Here it is presented the 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 2009. Among a total of 2,561,162 newborns surveyed, 38,503 (1.50%) had congenital defects detected...

More than 95% of our DNA is non-coding. This does not mean that 98% of the genome has no role at all, on the contrary. But, what is it there for? Part of this DNA contains cis-regulatory sequences that control when, where and how much a gene is transcribed. Cis-regulatory sequences can activate (en...

Arrays are made up of small fragments of DNA from known locations within each chromosome, and labelled probes that bind covalently to a silica or glass surface in a specifi c position (hence the name in silico). Both the sequence and genomic position of each probe are recorded in a database associa...

As far as we know, this article represents the fi rst epidemiological analysis of two series of consecutive newborn infants who presented with monosomy X or three X chromosomes, using data from ECEMC’s case-control study. For this analysis, four groups of newborn girls were used: infants with 45,X,...

This report is delivered annually by ECEMC (Spanish Collaborative Study of Congenital Malformations), a research programme on congenital anomalies, based on data from its ongoing, hospital-based, case-control registry of newborn infants in Spain. It has surveyed more than 2.7 million births, and st...

Caffeine is the most used psychoactive substance in the world. The objectives of this work are to study the consumption of caffeine during gestation in our country and its impact on weight, height and head circumference of newborns and analyze the risk for congenital malformations in the exposed ne...

During 2009, SITTE (aimed at the health professionals) received 889 calls and SITE (intended for the general population) received 4,008. Inquires about medication are the most frequent reasons for consulting both these services. What stands out is the high number of inquiries for psychoanaleptic an...