title: Anesthesia for a pediatric patient with cardiofaciocutaneous syndrome.
abstract: Cardiofaciocutaneous syndrome is a rare syndrome that is characterized by distinct craniofacial features, cardiac abnormalities, and multiple organ involvement. Patients may present with pulmonary stenosis, hypertrophic cardiomyopathy, micrognathia, a short neck, laryngomalacia, and tracheomalacia; all of which may significantly impact the perioperative course of these patients. We describe a 6-year-old child with cardiofaciocutaneous syndrome presenting for an orthopedic procedure. He had an uneventful perioperative and postoperative course.
authors.affiliation: From the Department of Pediatric Anesthesiology, Vanderbilt University Medical Center, Nashville, Tennessee.
authors.forename: Humphrey
authors.initials: H
authors.lastname: Lam
authors.forename: Shannon
authors.initials: S
authors.lastname: Dare
authors.forename: Thanh
authors.initials: T
authors.lastname: Nguyen
authors.forename: Thomas
authors.initials: T
authors.lastname: Austin
mesh_terms: D000015:Abnormalities, Multiple / Q000601:surgery*; D000758:Anesthesia / Q000379:methods*; D019644:Arthroplasty, Replacement, Hip; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications; D002648:Child; D004476:Ectodermal Dysplasia / Q000235:genetics; D019066:Facies; D005183:Failure to Thrive / Q000235:genetics; D006330:Heart Defects, Congenital / Q000235:genetics; D006617:Hip Dislocation / Q000601:surgery; D006801:Humans; D017214:Laryngeal Masks; D048370:MAP Kinase Kinase 2 / Q000235:genetics; D008297:Male; D009154:Mutation; D011666:Pulmonary Valve Stenosis
chemical_list: C482128:MAP2K2 protein, human; D048370:MAP Kinase Kinase 2