Author(s): Rodrigues, Ana Sofia ; da Silva, Maria de Abreu Nunes ; Azevedo, Aida ; Carvalho, Sónia Cristina Dias ; Sousa, Álvaro Rui Miranda ; Fortuna, Ana
Date: 2025
Persistent ID: http://hdl.handle.net/10400.16/3763
Origin: Repositório Científico da Unidade Local de Saúde de Santo António (ULSSA)
Subject(s): cardiofaciocutaneous syndrome; dysmorphic syndromes; hemihypertrophy; lymphedema; rasopathies
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.
