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Título
Síndromes muy poco frecuentes
Autor(es)
Cuevas Catalina, María Lourdes ISCIII | Barcia Ruiz, JM | López Soler, JA | Félix Rodríguez, V | Sanchis Calvo, A | Aparicio Lozano, P | Arroyo Carrera, I | Ayala Garcés, A | Conde Nieto, MC | Egüés Jimeno, J | García González, MM | Rosal Roig, J | Vázquez García, S | Zuazo Zamalloa, E | Mendioroz, J | Bermejo-Sanchez, Eva ISCIII | Martínez-Frías, María Luisa ISCIII
Fecha de publicación
2006-10
Cita
Boletín del ECEMC: Rev Dismor Epidemiol 2006; V (nº 5): 44-48
Idioma
Español
Tipo de documento
journal article
Resumen
Since the year 2002, this Section of the Boletín del ECEMC: Revista de Dismorfología y Epidemiología, is dedicated to dysmorphology, cytogenetics and clinical analysis of congenital anomalies, and includes a chapter on syndromes with very low frequency. The aim of this chapter is to summarize the most important characteristics, the etiology, and the mechanisms involved in the selected syndromes. The low frequency of these syndromes, together with their probable decreasing birth prevalence due to the impact of prenatal diagnosis, imply that pediatricians and other health professionals would have less opportunity to know their clinical characteristics. This circumstance together with the overlapping of the clinical features among some of the syndromes, make difficult to perform an early diagnosis, which is important for genetic counselling, and to provide the most suitable treatment to each pacient. The syndromes included are: Aarskog, Freeman-Sheldon, Cleidocranial dysplasia, Noonan, Cardio-Facio-Cutaneous and Costello. In addition, a short summary about the differential diagnosis among Noonan, Cardio-Facio-Cutaneous and Costello syndromes is also included.
Palabras clave
Síndrome de Noonan | Síndrome Cardio-facio-cutáneo | Síndrome de Costello | Síndrome de Freeman-Sheldon | Síndrome de Aarskog | Displasia cleido-craneal
Descripción
Dismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMC
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book
Luengo-Matos, Setefilla ISCIII; Polo de Santos, Maria del Mar ISCIII; Sanchez-Gomez, Luis Maria ISCIII