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.
journal_name
Pediatricsjournal_title
Pediatricsauthors
Pierpont ME,Magoulas PL,Adi S,Kavamura MI,Neri G,Noonan J,Pierpont EI,Reinker K,Roberts AE,Shankar S,Sullivan J,Wolford M,Conger B,Santa Cruz M,Rauen KAdoi
10.1542/peds.2013-3189subject
Has Abstractpub_date
2014-10-01 00:00:00pages
e1149-62issue
4eissn
0031-4005issn
1098-4275pii
peds.2013-3189journal_volume
134pub_type
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