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Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2011 - Serie VI Nº 1 

Sumario de Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2011 - Serie VI Nº 1

Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2011 - Serie VI Nº 1 

Número completo de: Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2011 - Serie VI Nº 1

Descripción de un nuevo caso de síndrome de Bohring-Opitz (o de Oberklaid-Danks) 

In 1999, Bohring et al. reported a new syndrome clinically distinguishable from cases with C syndrome or Opitz trigonocephaly. All the patients showed failure to thrive, microcephaly with metopic suture ridging, nevus flammeus over the forehead, thick hair and forehead hirsutism, shallow orbits w...

Síndrome de Sorsby: descripción de un caso que representa la segunda familia descrita 

In 1935, Sorsby [Br J Ophthalmol. 1935; 19:65-90] described a family with several affected individuals presenting with bilateral coloboma of macula, type B brachydactyly affecting hands and feet, and unilateral renal agenesis in one of its members. We describe a newborn girl presenting with the ...

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

It is presented here the analysis of the main clinical aspects of the infants with congenital defects registered by ECEMC (Spanish Collaborative Study of Congenital Malformations) between 1980 and 2010. Among a total of 2,648,286 newborns surveyed, 39,434 (1.49%) had congenital defects detected d...

Análisis de alteraciones cromosómicas estructurales y su distribución por cromo- somas en la serie de recién nacidos con defectos congénitos del ECEMC 

This study was aimed at estimating the frequency of unbalanced structural chromosomal anomalies identified in the consecutive series of newborn infants with congenital defects, registered in the Spanish Collaborative Study of Congenital Malformations (ECEMC). These cases were cytogenetically stud...

Informe anual del ECEMC sobre vigilancia epidemiológica de anomalías congénitas en España: Datos del período 1980-2010 

The Spanish Collaborative Study of Congenital Malformations (ECEMC) annually undertakes the preparation and updating of the report of epidemiological surveillance of congenital anomalies in Spain. ECEMC is a research programme for congenital anomalies, based on an ongoing registry of births in Sp...

Otros aspectos de vigilancia epidemiológica del ECEMC: Evolución temporal y por Comunidades Autónomas, de los nacimientos de la población inmigrante 

It is well known that immigration has increased along the time in Spain, especially in the most recent years. We have analyzed data from ECEMC in order to quantify this phenomenon in the sample of 35,441 controls (newborn infants without congenital defects) registered by ECEMC in the period 1980-...

Análisis Epidemiológico de las infecciones urinarias y la exposición a Fosfomicina durante el embarazo en madres de niños con y sin defectos congénitos: Distribución por años y por comunidades autónomas 

The objective of this study was to epidemiologically analyze urinary tract infections (UTI) suffered by pregnant women, and the prenatal exposure to Fosfomycin. To accomplish this objective, data from the Spanish Collaborative Study of Congenital Malformations (ECEMC) were analyzed for the period...

Consumo de Antihistamínicos-H1 durante el primer trimestre del embarazo en España, y estimación del riesgo global para defectos congénitos en el recién nacido 

H1 antihistamines (H1A) are drugs that have been used for many years for treatment of allergic diseases, as for the control of nausea and morning sickness in pregnant women. Here it is analyzed the evolution of their global use during gestation and by the different groups of H1A, along the last 3...

Actividad de los Servicios de Información sobre Teratógenos (SITTE y SITE) durante el año 2010 

We present a summary of the activity of the two Teratology Information Services: SITTE (for health professionals) and SITE (for the general population) during the year 2010. The total number of calls received in both services was 5,087 (814 received by SITTE and 4,273 by SITE). We present the dis...