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Unveiling the Complexity: Mosaic Cardiofaciocutaneous Syndrome Presenting with ...

Rodrigues, Ana Sofia; da Silva, Maria de Abreu Nunes; Azevedo, Aida; Carvalho, Sónia Cristina Dias; Sousa, Álvaro Rui Miranda; Fortuna, Ana

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 ...

Date: 2025   |   Origin: Repositório Científico da Unidade Local de Saúde de Santo António (ULSSA)
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