Sumario de Boletín del ECEMC: Revista de Dismorfología y Epidemiología 2005; Serie V Nº 4

Número completo de: Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2005 - Serie V Nº 4

Under the term "Epidermolysis Bullosa" (EB), there is a heterogeneous group of vesicular disorders that are generally congenital and of genetic origin, and affect skin and often mucosas. It is remarkable the extreme fragility of these epithelia; the vesicles arise spontaneously as well as induced b...

The partial trisomy 7q is characterized by the presence of dysmorphic features, low birth weight, hypotonia, renal and skeletal anomalies, pulmonary hypoplasia and cardiac defects. The subtelomeric 20p monosomy, is a very rare anomaly which has only being reported in a patient with developmental de...

Some clinical aspects of the total set of infants registered by the Spanish Collaborative Study of Congenital Malformations (ECEMC) during the period 1980-2004, have been analyzed through an epidemiological approach. The ECEMC is defined as a clinical-epidemiological research program on congenital ...

As in previous years, six new syndromes have been selected to be included in this section, aimed to make easier the recognition of syndromes with low-frequency by paediatricians and first health care physicians, particularly those of rural areas. In this Boletín, the following syndromes are include...

Preventive medicine is an important area of health care, mainly in Primary Health Care. Because it is acted on healthy people (in Genetics and Dysmorphology mainly in foetal and neonatal period), preventive medicine needs even stronger supporting evidence (on benefits, harms and costs) than therape...

Rubella is a viral infection that when it occurs during pregnancy, especially during the first trimester, could cause congenital rubella embryophaty (CRE) with devastating consequences for the developing embryo and fetus. CRE includes serious birth defects such as: cataracts, deafness and heart dis...

The main results of the annual surveillance of congenital anomalies performed in the ECEMC (Spanish Collaborative Study of Congenital Anomalies) are presented here. The analysed data correspond to the last 25 years (1980-2004). A total of 2,045,751 newborn infants were surveyed, for an overall cove...

We present a summary of the activity of the two teratology information services: SITTE (for health professional) and SITE (for the general population), during 2004. A total of 6.407 calls were received, 1.456 of them were made by health professional and the remaining 4.951 by the general population...