Sumario de 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

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 palat...

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) had ...

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) ...

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 Year...

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 asking...