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Publicação
Unveiling the Complexity: Mosaic Cardiofaciocutaneous Syndrome Presenting with Exuberant Elephantiasis Nostras Verrucosa
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Orientador(es)
Resumo(s)
Cardiofaciocutaneous syndrome (CFC) is a rare disorder of the RAS MAPK-pathway and is characterized by dysmorphic facial appearance, hair and skin abnormalities, congenital heartdefects, growth retardation and global developmental delay. We report the clinical case of a 17 -year-old female with hemihypertrophy, lymphedema, dysmorphic features and intellectual disability in whom peripheral blood panel study for RASopathies confirmed the presence of KRAS pathogenic variant c.34G>A (G12D). The ectodermal phenotype, including lymphedema appeared to be restricted to the right hemihypertrophy, and its pattern is suggestive of mosaicism for the condition, which has not previously been described in CFC, to our knowledge.
Descrição
Palavras-chave
cardiofaciocutaneous syndrome dysmorphic syndromes hemihypertrophy lymphedema rasopathies
Contexto Educativo
Citação
Birth and Growth Medical Journal 2025;34(3):132-136. doi:10.25753/BirthGrowthMJ.v34.i3.29304
Editora
Unidade Local de Saúde de Santo António