Please use this identifier to cite or link to this item:http://hdl.handle.net/20.500.12105/14026
Síndromes muy poco frecuentes
Cuevas Catalina, María Lourdes ISCIII | Aparicio-Lozano, P | Arroyo-Carrera, I | Ayala-Garcés, A | Blanco-García, M | Burón-Martínez, E | Centeno-Malfaz, F | Félix-Rodríguez, V | García-García, A | García-Vicent, C | Hernández-Ramón, M F | Lara-Palma, A | López-Mendoza, S | López-Soler, JA | Marco-Pérez, JJ | Martín-Sanz, F | Mayoral-González, B | Mestre-Ricote. JL | Nieto-Conde, MC | Oliván del Cacho, MJ | Paisán-Grisolía, L | Peñas-Valiente, A | Rodríguez-Leal, A | Sanchis-Calvo, A | Vázquez-García, S | Vizcaíno-Díaz, C | Mendioroz Peña, J | Bermejo-Sanchez, Eva ISCIII
Boletín del ECEMC: Rev Dismor Epidemiol 2007; V (nº 6): 36-42
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.
Síndrome de Crouzon | Síndrome Pfeiffer | Síndrome de Apert | Síndrome de Saethre-Chotzen | Síndrome de Carpenter | Síndrome de Muenke
Dismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMC
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