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00925njm 22002777a 4500 dc Cuevas Catalina, María Lourdes author Aparicio-Lozano, P author Arroyo-Carrera, I author Ayala-Garcés, A author Blanco-García, M author Burón-Martínez, E author Centeno-Malfaz, F author Félix-Rodríguez, V author García-García, A author García-Vicent, C author Hernández-Ramón, M F author Lara-Palma, A author López-Mendoza, S author López-Soler, JA author Marco-Pérez, JJ author Martín-Sanz, F author Mayoral-González, B author Mestre-Ricote. JL author Nieto-Conde, MC author Oliván del Cacho, MJ author Paisán-Grisolía, L author Peñas-Valiente, A author Rodríguez-Leal, A author Sanchis-Calvo, A author Vázquez-García, S author Vizcaíno-Díaz, C author Mendioroz Peña, J author Bermejo-Sanchez, Eva author 2007-10 The aim of this chapter is to summarize updated knowledge about the clinical characteristics, etiology, genetic and molecular aspects, as well as mechanisms involved in syndromes having very low frequency, in order to promote their better recognition. During the last five years, a total of 30 syndromes have been published in this chapter of the Boletín del ECEMC. This issue includes the following selected syndromes: Crouzon, Pfeiffer, Apert, Saethre-Chotzen, Carpenter and Muenke. All share craniosynostosis as the main clinical feature but also present with other birth defects, the most important being limb malformations, specially syndactyly and polydactyly. Over 100 syndromes with craniosynostosis have been described, usually involving multiple sutures, and several of them are associated with limb malformations. The clinical overlapping between those syndromes makes difficult to perform a neonatal diagnosis, based on their clinical findings. However, molecular genetic testing, specifically of the FRGR1-3 and TWIST1 genes, could help to establish the diagnosis of some of them. Early diagnosis is important for establishing the most suitable treatment for each patient, as well as to offer an accurate genetic counselling and the possibility of preimplantational and/or prenatal diagnosis. Boletín del ECEMC: Rev Dismor Epidemiol 2007; V (nº 6): 36-42 0210–3893 Boletín del ECEMC: Revista de Dismorfología y Epidemiología http://hdl.handle.net/20.500.12105/14026 Síndrome de Crouzon Síndrome Pfeiffer Síndrome de Apert Síndrome de Saethre-Chotzen Síndrome de Carpenter Síndrome de Muenke Síndromes muy poco frecuentes