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oai:repisalud.isciii.es:20.500.12105/140142025-03-13T08:36:16Zcom_20.500.12105_5571com_20.500.12105_2404com_20.500.12105_2403col_20.500.12105_5710

00925njm 22002777a 4500 dc Cuevas Catalina, María Lourdes author Barcia Ruiz, JM author López Soler, JA author Félix Rodríguez, V author Sanchis Calvo, A author Aparicio Lozano, P author Arroyo Carrera, I author Ayala Garcés, A author Conde Nieto, MC author Egüés Jimeno, J author García González, MM author Rosal Roig, J author Vázquez García, S author Zuazo Zamalloa, E author Mendioroz, J author Bermejo-Sanchez, Eva author Martínez-Frías, María Luisa author 2006-10 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. Boletín del ECEMC: Rev Dismor Epidemiol 2006; V (nº 5): 44-48 0210–3893 Boletín del ECEMC: Revista de Dismorfología y Epidemiología http://hdl.handle.net/20.500.12105/14014 Síndrome de Noonan Síndrome Cardio-facio-cutáneo Síndrome de Costello Síndrome de Freeman-Sheldon Síndrome de Aarskog Displasia cleido-craneal Síndromes muy poco frecuentes