2026-06-14T03:39:46Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/136972025-03-13T08:38:39Zcom_20.500.12105_5571com_20.500.12105_2404com_20.500.12105_2403col_20.500.12105_5613

00925njm 22002777a 4500 dc Mendioroz, J author Bermejo-Sanchez, Eva author López Grondona, Fermín author Felix Rodríguez, V author Valdivia, L author Rosa, A author Blanco, M author Sanchis, A author Centeno, F author Espinosa Pérez, MJ author Ayala, A author Pérez, JL. author Mousallem, D author Burón Martínez, E author Vázquez García, MS author Rodríguez-Pinilla, Elvira author Martínez-Frías, María Luisa author 2004-10 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 database registry. In this Boletín we include the following syndromes: Townes-Bröcks, MMT, Smith-Lemli-Opitz, Coffin-Siris, Espleno-gonadal fusion, and Silver-Russell syndromes. For each syndrome, we described the most important clinical characteristics, and the present knowledge of their causal factors. Boletín del ECEMC: Rev Dismor Epidemiol 2004; V (nº 3): 14-17 0210–3893 Boletín del ECEMC: Revista de Dismorfología y Epidemiología http://hdl.handle.net/20.500.12105/13697 Dismorfología Anomalías congénitas Epidemiología Síndrome de Townes-Bröcks Síndrome de MMT Síndrome de Smith-Lemli-Opitz Síndrome de Coffin-Siris Síndrome de Silver-Russell Síndrome de Fusión espleno-gonadal Síndromes muy poco frecuentes