Very few frequent syndromes

التفاصيل البيبلوغرافية
العنوان: Very few frequent syndromes
المؤلفون: Martínez-Frías, María Luisa, Mendioroz, J, López Grondona, Fermín, Bermejo-Sanchez, Eva, Rodríguez-Pinilla, Elvira, Aparicio, P, Blanco, M, Cuevas Catalina, María Lourdes, Foguet, A., López, JA, Plaja, P, Pantoja, A, Rodriguez, Laura, Rodríguez, A, Valdivia, L, Vázquez MS
بيانات النشر: Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER), 2003.
سنة النشر: 2003
مصطلحات موضوعية: Síndrome de Kingston, Anomalías congénitas, Epidemiología, Síndrome de Displasia metatropica, Síndrome de Greig, Síndrome de Oto-Palato-Digital, Dismorfología, Síndrome de Goltz, Síndrome de Robinow recesivo
الوصف: Dismorfología, Citogenética y Clínica: Resultados sobre los datos del ECEMC 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. No
اللغة: Spanish; Castilian
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______4734::9ceeaf1f4975baa829d22721cb7e0140
https://hdl.handle.net/20.500.12105/13661
Rights: OPEN
رقم الانضمام: edsair.od......4734..9ceeaf1f4975baa829d22721cb7e0140
قاعدة البيانات: OpenAIRE