Publication: Síndromes muy poco frecuentes
Loading...
Identifiers
Publication date
2003-10
Authors
Martínez-Frías, María Luisa ISCIII
López Grondona, Fermín ISCIII
Bermejo-Sanchez, Eva ISCIII 
Rodríguez-Pinilla, Elvira ISCIII
Advisors
Journal Title
Journal ISSN
Volume Title
Publisher
Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER)
Metrics
Export
Abstract
This section is based on two facts: First, that the majority of the malformation syndromes are very few frequent. Second, the progressive generalization in our country of the prenatal diagnosis with a high resolution echography performed to all women between 18-20 weeks of gestation as a Service of the National Health System, together with the possibility of voluntary interruption of gestation if fetal anomalies are detected. Thus, the impact of prenatal diagnosis is that the frequency at birth of these syndromes shows an important and progressive decreasing trend. For these reasons, in addition to the difficulty for pediatricians and geneticists or our population to diagnose these usually rare syndromes, the impact of prenatal diagnosis increases the usual difficulties that the young pediatricians and geneticists have to identify these pathologies. This increases the possibility that some affected patients can remain undiagnosed for a long time, or even never be diagnosed. As started last year in this section of the "Boletín del ECEMC", we present other six syndromes of low frequency in our country.
Description
Dismorfología, Citogenética y Clínica: Resultados sobre los datos del ECEMC
MeSH Terms
DeCS Terms
Bibliographic citation
Boletín del ECEMC: Rev Dismor Epidemiol 2003; V (nº 2): 30-33