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Boletín del ECEMC: Revista de Dismorfología y Epidemiología 2004; Serie V Nº 3 

Sumario de Boletín del ECEMC: Revista de Dismorfología y Epidemiología 2004; Serie V Nº 3

Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2004 - Serie V Nº 3 

Número completo de: Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2004 - Serie V Nº 3

Aspectos diagnósticos, etiológicos y genéticos de las ictiosis congénitas al nacimiento 

The Ichthyoses constitutes a large family of genetic skin diseases characterized by dry skin and variable degrees of blisters and scales. There are at least twenty varieties of ichthyosis, with a wide range of severity and associated symptoms, and genetic heterogeneity (autosomal dominant, autosoma...

Síndromes muy poco frecuentes 

In an attempt to facilitate the knowledge of the malformation syndromes that have very few frequencies to pediatricians and first health care physicians, particularly to those of rural areas, we have selected six new syndromes. As in previous years, the syndromes are selected from the ECEMC databas...

Deleción 14q proximal, presentación de dos casos y revisión de la literatura 

Here we present two unrelated cases that came to our service for families that are looking for information on the diagnostic on malformation syndromes and infants with congenital defects. Both cases show as common signs psychomotor delay, microcephaly, corpus callosum agenesis and inespecific facia...

Aspectos Clínico-Epidemiológicos de los recién nacidos con anomalías congénitas registrados en el ECEMC 

Data gathered by the Spanish Collaborative Study of Congenital Malformations (ECEMC) during the period 1980-2003 have been analyzed to study some clinical aspects of congenital anomalies through an epidemiological point of view. Data of the ECEMC correspond to a consecutive series of newborn infant...

Problemática del diagnóstico de los niños malformados cuyas madres son diabéticas 

Taking into consideration that teratogenic agents do not alter the 100% of exposed pregnancies, we posit that each malformed infant born from a diabetic mother should no be automatically consider as having a diabetic embryofetopathy without a deep evaluation of other potential causal agents. The di...

Intoxicación crónica por monóxido de carbono durante el embarazo: Presentación de un caso 

Here we present a case of chronic carbon monoxide (CO) poisoning during pregnancy. The pregnant women suffered from headache, vomiting, dizziness…since the very beginning, which were considered symptoms of her pregnancy. The sudden death of a couple of birds 24 hours after they were located in her ...

Vigilancia Epidemiológica de Anomalías Congénitas en España, en los últimos 24 años 

As a part of the usual surveillance of congenital anomalies performed in the ECEMC (Spanish Collaborative Study of Congenital Anomalies) database, we have analysed the information gathered in the period 1980-2003, during which a total of 1,941,742 newborn infants were surveyed. The ECEMC registry c...

Servicio de Información Telefónica sobre Teratógenos Español (SITTE) y Servicio de Información Telefónica para la Embarazada (SITE): Resultados del año 2003 

Here is presented a summary of inquiries made to our teratology information services, SITTE (for health professionals) and SITE (for the general population), during the year 2003. A total of 4,607 calls to the SITE and 1,257 to the SITTE were received during this year. As in previous years, most of...