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Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2012 - Serie VI Nº 2 

Sumario de Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2012 - Serie VI Nº 2

Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2012 - Serie VI Nº 2 

Número completo de: Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2012 - Serie VI Nº 2

Síndrome de Johnson-McMillin: Descripción del primer paciente de España 

The JMS (OMIM: 147770) is a rare autosomal dominant neuroectodermal disorder characterized by alopecia, ear malformations, conductive hearing loss, anosmia/hyposmia, and hypogonadotropic hypogonadism. Morover, some additional features have been described so far (congenital heart defect, cleft pa...

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

This chapter is aimed at epidemiologically analyze the main clinical aspects of the infants with congenital defects registered by ECEMC (Spanish Collaborative Study of Congenital Malformations) during the period 1980-2011. A total of 2,735,086 newborns were surveyed, and 1.47% of them (40,329) ha...

Un nuevo paciente con deleción 10p y revisión de la literatura. Estudio de la correlación genotipo-fenotipo 

Since the first report by Elliott et al., in 1970, of a patient with partial deletion of the short arm of chromosome 10 (10p), at least 67 further cases have been reported, of which 44 were pure de novo deletions. Two syndromes have been associated with deletions of 10p: DiGeorge 2 syndrome (DGS2...

Informe de vigilancia epidemiológica de anomalías congénitas en España sobre los datos registrados por el ECEMC en el período 1980-2011 

Congenital anomalies are a leading cause of perinatal mortality (according to EUROCAT’s data, it reaches a prevalence of 9.4 per 10,000 births). Moreover, the most recent Global Burden of Disease Project estimated that congenital anomalies in 2010 accounted for 732,000 Disability Adjusted Life Ye...

Actividad de los Servicios de Información Telefónica sobre Teratógenos (SITTE y SITE) durante el año 2011 

We present a summary of the activity of the two Teratology Information Services: SITTE (for health professionals) and SITE (for the general population) during year 2011. The total number of calls received in both services was 5,340 (829 from SITTE and 4,511 from SITE). We also analyzed calls aski...