Cardio-Facio-Cutaneous Syndrome with an Unusual Presentation of Respiratory Failure Requiring Tracheostomy and Long-term Ventilation

Abstract

Cardio-facio-cutaenous (CFC) syndrome is a phenotypically diverse disorder that is caused by mutations in the RAS/MEK/ERK signaling pathway, sharing many clinical similarities with Noonan and Costello syndromes. Classic findings of CFC include congenital cardiac anomalies, dysmorphic facial features, dermatological manifestations, and other multisystemic abnormalities. Laryngomalacia, generalized muscle weakness, and hypotonia have been reported phenotypical variants of the disorder. We describe a case of a male newborn with a genetic diagnosis of CFC syndrome who presented with respiratory failure requiring tracheostomy placement and chronic ventilation