Eva Bermejo

..The most frequent defects associated with amelia were other types of musculoskeletal defects, intestinal, some renal and genital defects, oral clefts, defects of cardiac septa, and anencephaly...

..It is finally emphasized how the epidemiological data can contribute to the prevention of that group of rare diseases...

..It is also recommended to perform additional studies (ophthalmologic, cardiologic, among others) to rule out the existence of associated anomalies, which are more frequent than previously considered...

..8%) or ETOPFA (15.4%) than isolated cases. The most common associated defects were musculoskeletal, cardiac, and intestinal. Epidemiological differences between phocomelia and amelia highlighted possible differences in their causes...

..It is inherited as an autosomal recessive condition, its gene (DYM) having been mapped in the 18q12-21.1 chromosomal region. At least 21 different mutations of this gene have been reported...

..The results, together with the embryonic development of the umbilical cord, strongly suggest that not all cases of SUA have the same cause, and that all previously suggested mechanisms may be possible but with different frequencies...

..This supports autosomal dominant inheritance, as proposed by (Frías et al. [1975] BDOAS 11:30-33), although with variable expressivity...

..The aim of the study was to analyze the frequency and certain epidemiological characteristics of a consecutive series of conjoined twins born in Spain...

..Three possible mechanisms are considered by evaluating the results in the light of the present knowledge on cytology and molecular biology...

..In that study Spain participated through the ECEMC group. Here we present the distribution of the frequency of the T-allele by Spanish Regions (Autonomic Comunities)...

..The information about the convenience of non-smoking during pregnancy has increased in recent years. For this reason, we studied weather there has been any variation in smoking habits by pregnant women in Spain...

..Because maternal age has increased in Spain, it can also be expected an increase in these variables. We analyzed their evolution over the time and by maternal age, either globally and by Spanish Autonomous Communities...

..We report an epidemiological study of the potential risk of congenital defects in the offspring of mothers who ingested different sporadic and daily amounts of alcohol during pregnancy...

..Alström syndrome is caused by specific mutations in the ALMS1 gene, located at chromosome 2p13...

..Since 1992, the recommendation on the ingestion of folic acid (FA) to prevent congenital defects has become general in developed countries. In this paper, we analyze such a situation in Spain in most recent years...

..The study included a meta-analysis of the published data...

..Our results suggest that the 8q21.11 submicroscopic deletion represents a clinically recognizable entity and that a haploinsufficient gene or genes within the minimal deletion region could underlie this syndrome...

..We tested HOXD13 but did not find any mutations in exons and intron-exon boundaries. To our knowledge this case is the second one reported with this syndrome...

..We studied the secular trend of hypospadias in Spain over the past 22 years, separating the minor and major forms...

..This result was confirmed in a newborn infant with TD, and suggests new non-surgical therapeutic approaches, that is, Snail1 as a new encouraging therapeutic target...

..The fetal alcohol syndrome (FAS) is considered as the main preventable cause of congenital defects and mental deficiency. We analyzed whether the consumption of alcohol during gestation has changed in Spain...

..An appropriate case definition in etiological studies should include only isolated gastroschisis after an appropriate definition of isolated and non-isolated cases and a thorough case-by-case review...

..Our analysis showed that the risk of NTDs did not vary by SES. This finding suggests that increased access to folate and nutrition education might benefit women of lower SES in the US...