Abstract:Costello syndrome (CS) is a rare genetic disorder, first described by Costello in
1971, caused by mutations in the HRAS proto-oncogene. Clinical findings include
facial dysmorphism, skin disorders, cognitive impairment, cardiac and musculoskeletal
defects. There is an increased risk of malignancies in these patients, due to the
proto-oncogene mutation, and also sudden death secondary to heart disease. We report
a case with characteristic phenotype, highlighting the peculiar skin changes.
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