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Title: Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines
Authors: Pierpont, Mary Ella M.
Magoulas, Pilar L.
Adi, Saleh
Kavamura, Maria Ines [UNIFESP]
Neri, Giovanni
Noonan, Jacqueline
Pierpont, Elizabeth I.
Reinker, Kent
Roberts, Amy E.
Shankar, Suma
Sullivan, Joseph
Wolford, Melinda
Conger, Brenda
Cruz, Molly Santa
Rauen, Katherine A.
Univ Minnesota
Childrens Hosp & Clin Minnesota
Texas Childrens Hosp
Baylor Coll Med
Benioff Childrens Hosp
Univ Calif San Francisco
Universidade Federal de São Paulo (UNIFESP)
Catholic Univ
Univ Kentucky
Univ Texas Hlth Sci Ctr San Antonio
Boston Childrens Hosp
Harvard Univ
Emory Univ
Youngstown State Univ
Univ Calif Davis
Keywords: cardio-facio-cutaneous syndrome
BRAF mutation
management guidelines
MEK1 mutation
MEK2 mutation
Issue Date: 1-Oct-2014
Publisher: Amer Acad Pediatrics
Citation: Pediatrics. Elk Grove Village: Amer Acad Pediatrics, v. 134, n. 4, p. E1149-E1162, 2014.
Abstract: Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies that bears many clinical features in common with the other syndromes in this group, most notably Noonan syndrome and Costello syndrome. CFC is genetically heterogeneous and caused by gene mutations in the Ras/mitogen-activated protein kinase pathway. the major features of CFC include characteristic craniofacial dysmorphology, congenital heart disease, dermatologic abnormalities, growth retardation, and intellectual disability. It is essential that this condition be differentiated from other RASopathies, as a correct diagnosis is important for appropriate medical management and determining recurrence risk. Children and adults with CFC require multidisciplinary care from specialists, and the need for comprehensive management has been apparent to families and health care professionals caring for affected individuals. To address this need, CFC International, a nonprofit family support organization that provides a forum for information, support, and facilitation of research in basic medical and social issues affecting individuals with CFC, organized a consensus conference. Experts in multiple medical specialties provided clinical management guidelines for pediatricians and other care providers. These guidelines will assist in an accurate diagnosis of individuals with CFC, provide best practice recommendations, and facilitate long-term medical care.
ISSN: 0031-4005
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