心-面-皮肤综合征(CFC)是与该组中的其他综合征具有许多共同临床特征的RASopathies之一,最著名的是Noonan综合征和Costello综合征.CFC是遗传异质性的,由Ras/丝裂原激活的蛋白激酶途径中的基因突变引起。CFC的主要特征包括特征性颅面畸形,先天性心脏病,皮肤病学异常,生长迟缓,智力残疾。这种情况必须与其他放射病区分开来,正确的诊断对于适当的医疗管理和确定复发风险很重要。患有CFC的儿童和成人需要专家的多学科护理,照顾受影响个人的家庭和卫生保健专业人员显然需要全面管理。为了满足这一需求,国际氟氯化碳,一个非营利性的家庭支持组织,提供一个信息论坛,支持,以及促进对影响使用氟氯化碳的个人的基本医疗和社会问题的研究,组织了一次共识会议。多个医学专业的专家为儿科医生和其他护理提供者提供了临床管理指南。这些指南将有助于准确诊断CFC患者,提供最佳实践建议,并促进长期医疗。
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.