2026-06-14T03:45:56Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/140172025-03-10T13:24:26Zcom_20.500.12105_5571com_20.500.12105_2404com_20.500.12105_2403col_20.500.12105_5710
Repisalud
author
Mendioroz, J
author
Cuevas Catalina, María Lourdes
author
Bermejo-Sanchez, Eva
author
Martínez-Frías, María Luisa
2022-04-18T11:24:55Z
2022-04-18T11:24:55Z
2006-10
Boletín del ECEMC: Rev Dismor Epidemiol 2006; V (nº 5): 2-17
0210–3893
Boletín del ECEMC: Revista de Dismorfología y Epidemiología
http://hdl.handle.net/20.500.12105/14017
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.
spa
Hamartoneoplastic syndromes
Genetics
Clinical features
Revisión: Aspectos clínicos y genéticos de las hamartoneoplasias que pueden ser diagnosticadas en los tres primeros días de vida
research article
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RevisiónAspectosClínicosGenéticos_2006.pdf
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RevisiónAspectosClínicosGenéticos_2006.pdf.txt