Publication: Revisión: Aspectos clínicos y genéticos de las hamartoneoplasias que pueden ser diagnosticadas en los tres primeros días de vida
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2006-10
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Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER)
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Abstract
The hamartoneoplastic syndromes are an heterogeneous group of diseases characterized by their risk to develop malignant tumors among other clinical features that vary from one syndrome to another. Most of these pathologies also share endocrinological abnormalities and sometimes, genetic characteristics, including the autosomal dominant mode of inheritance. Therefore, pediatricians must be aware of their main characteristics in order to prevent as soon as possible further complications and to provide the appropiate genetic counseling to the affected patients and their families. In this chapter, we have classified these pathologies in seven different groups according to the more frequently affected tissue by the development of hamartomas. For each of these groups we reviewed the hamartoneoplastic syndromes that have some manifestations at birth. Finally, some practical guidelines are provided for their clinical, genetic diagnosis, and management.
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Dismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMC
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Boletín del ECEMC: Rev Dismor Epidemiol 2006; V (nº 5): 2-17