2026-05-05T14:30:25Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/136612025-03-13T08:37:02Zcom_20.500.12105_5571com_20.500.12105_2404com_20.500.12105_2403col_20.500.12105_5608

00925njm 22002777a 4500 dc Martínez-Frías, María Luisa author Mendioroz, J author López Grondona, Fermín author Bermejo-Sanchez, Eva author Rodríguez-Pinilla, Elvira author Aparicio, P author Blanco, M author Cuevas Catalina, María Lourdes author Foguet, A. author López, JA author Plaja, P author Pantoja, A author Rodriguez, Laura author Rodríguez, A author Valdivia, L author Vázquez MS author 2003-10 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. Boletín del ECEMC: Rev Dismor Epidemiol 2003; V (nº 2): 30-33 0210-3893 Boletín del ECEMC: Revista de Dismorfología y Epidemiología http://hdl.handle.net/20.500.12105/13661 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 Síndromes muy poco frecuentes