التفاصيل البيبلوغرافية
| العنوان: |
Síndromes muy poco frecuentes ; 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) |
| سنة النشر: |
2003 |
| المجموعة: |
REPISALUD (REPositorio Institucional en SALUD del Instituto de Salud Carlos III - ISCIII) |
| مصطلحات موضوعية: |
Dismorfología, Anomalías congénitas, Epidemiología, Síndrome de Robinow recesivo, Síndrome de Goltz, Síndrome de Greig, Síndrome de Oto-Palato-Digital, Síndrome de Kingston, Síndrome de Displasia metatropica |
| 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 |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
Spanish; Castilian |
| تدمد: |
0210-3893 |
| Relation: |
Boletín del ECEMC: Rev Dismor Epidemiol 2003; V (nº 2): 30-33; http://hdl.handle.net/20.500.12105/13661; Boletín del ECEMC: Revista de Dismorfología y Epidemiología |
| الاتاحة: |
https://hdl.handle.net/20.500.12105/13661 |
| Rights: |
http://creativecommons.org/licenses/by-nc-sa/4.0/ ; Atribución-NoComercial-CompartirIgual 4.0 Internacional ; open access |
| رقم الانضمام: |
edsbas.32428BA5 |
| قاعدة البيانات: |
BASE |