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Boletín del ECEMC: Revista de Dismorfología y Epidemiología 2009; Serie V Nº 8 

Sumario de Boletín del ECEMC: Revista de Dismorfología y Epidemiología 2009; Serie V Nº 8

Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2009 - Serie V Nº 8 

Número completo de: Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2009 - Serie V Nº 8

Síndrome de Aicardi-Goutieres de presentación neonatal simulando infección congénita 

Aicardi-Goutières Syndrome (AGS) is a genetic disorder with autosomal recessive aetiology characterized by an early developed encephalopathy with severe physical and mental handicaps. The neonatal form (20% of the cases) shows a phenotype similar to a congenital infection, hence there exists the ...

Síndrome de Mowat-Wilson con una deleción en el gen ZEB2 no descrita previamente 

Mowat-Wilson syndrome –MWS- (MIM 235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 (Zinc finger E-box-binding homeobox 2 gene) gene, that codifies the SIP1 (Smad interacting protein 1) localized within the 2q22-q23 chromosomal region. It conforms a syndrome ...

Situación actual en España sobre el diagnóstico etiológico en fetos procedentes de abortos por defectos congénitos. Directrices para un protocolo mínimo 

Since the passing of the Spanish law permitting termination of pregnancy (ToP) after the detection of foetal anomalies, in July 1985, the ECEMC has undertaken the commitment to register the maximum information regarding the cases of ToP due to congenital anomalies. This interest is not only promp...

Análisis clínico de los recién nacidos con defectos congénitos registrados en el ECEMC: Distribución por etiología y por grupos étnicos 

In this chapter, the information gathered by ECEMC between January 1980 and December 2008 has been analysed. It corresponds to 2,463,134 consecutive newborn infants surveyed, among which 37,545 (1.52%) presented congenital defects detected during the first 3 days of life. When these were distribu...

Paciente con Síndrome de Cri-Du-Chat y de Beckwith-Wiedemann originado por un derivado de translocación paterna 

Cri-du-Chat syndrome (CdCS) is one of the most common deletion syndromes (1/15,000-1/50,000 live births) caused by the loss of material from the short arm of chromosome 5 (5p). Although the breakpoints are variable, the CdCS critical region has been shown to be located at 5p15.2 as microdeletions...

Reordenamientos cromosómicos complejos (CCRs): Presentación de un nuevo caso con 5 puntos de rotura entre los cromosomas 4 y 8. 

Complex chromosomal rearrangements (CCRs) were first defined by Pai et al. (1980) as "structural chromosomal rearrangements with at least three breakpoints and the exchange of genetic material between two or more chromosomes”. More recently, in 2003, Houge et al. redefined CCRs as "constitutional...

Vigilancia epidemiológica de anomalías congénitas en España: Análisis de los datos del registro del ECEMC en el período 1980-2008 

The Spanish Collaborative Study of Congenital Malformations (ECEMC) is a programme for research on congenital anomalies. It was created in 1976 by Prof. Martínez-Frías, as a hospital-based, case-control registry of newborn infants in Spain. Since its foundation, it has surveyed a total population...

Características de las madres que siguieron técnicas de reproducción asistida 

Background: Assisted reproductive technologies (ART), such as in vitro fertilization, intracytoplasmic sperm injection (ICSI), assisted fecundation, and all the fertility treatments and procedures, have been successfully used to overcome infertility. Indeed, it has been estimated that between 1 a...

Fármacos antipsicóticos y embarazo: resumen de la literatura y experiencia en el ECEMC 

The antipsychotic drugs are medications about which a considerable number of telephone calls are received in our teratology information services (SITTE and SITE). We present a review of the literature about the use of this group of drugs during pregnancy. On the other hand, in order to assess the...

Actividad de los servicios de información sobre teratógenos (SITTE y SITE) durante el año 2008. 

We summarize the activity of the two Teratology Information Services: SITTE (for health professionals) and SITE (for the general population), during 2008. The total number of calls received in both services was 4,910 (943 from SITTE and 3,967 from SITE). This number has increased compared to prev...

El análisis cienciométrico de las publicaciones biomédicas sobre genética y dismorfología clínica 

Genetic and dysmorphology sciences form a multidisciplinary field that produces a wide range of scientific journals. The aim of this study was to perform a scientometric analysis of genetic science journals in Journal Citation Reports-Science Citation Index. Methodology: we study the three areas ...