Revista de Ciencias Médicas de Pinar del Río
versão ISSN 1561-3194
ORRACA CASTILLO, Miladys; LICOURT OTERO, Deysi e SANCHEZ ALVAREZ DE LA CAMPA, Ana Isabel. Reports of families suffering from neurofibromatosis and other genetic disorders. Rev Ciencias Médicas [online]. 2011, vol.15, n.4, pp. 260-268. ISSN 1561-3194.
Neurofibromatosis type-1 is a genetic condition that affects the development and cellular growth of the nervous system, which is clinically characterized by multiple café-au-lait spots, neurofibromas, freckles in non-sun exposed regions, Lisch nodules, osseous lesions and optic glioma. The present paper describes two families, having some individuals suffering from this condition and other members of the same family who present a different genetic condition. The intrafamilial coexistence of two different genetic conditions is very rare, that is why a literature review and a scientific research about the topic were carried out.
Palavras-chave : NEUROFIBROMATOSES [genetics]; NEUROFIBROMATOSES [classification]; NEUROFIBROMATOSES [diagnosis]; MUSCULAR DISTROPHIES [genetics].