Abstract: Objective　To raise awareness of cardio-facio-cutaneous syndrome（CFC）. Methods　Summarize the clinical data of a case of CFC diagnosed in Beijing Children's Hospital，Capital Medical University in January 2022，and review the relevant literature. Results　CFC was rare.Its clinical manifestations included special facial features，congenital heart disease，cutaneous diseases，growth and development disorders，gastrointestinal dysfunction，neurocognitive delay and seizures，etc.Homozygous or complex heterozygous mutations in genes such as BRAF were helpful in diagnosis. At present，there was no effective treatment for this disease.Multi-disciplinary symptomatic treatment for clinical symptoms and long term follow-up are needed. Conclusion　CFC should be recognized timely.We should identify CFC by clinical manifestations，and then take a genetic test to holp diagnose CFC.Treatment for CFC is still difficult and challenging.For CFC children with feeding difficulties，assisted feeding is very important.

Key words: intestinal malrotation, cardio-facio-cutaneous synclrome, BRAF gene, child

摘要： 目的　提高对心-面-皮肤综合征（CFC）的认识。方法　总结2022年1月经首都医科大学附属北京儿童医院确诊的1例CFC患儿临床资料，并复习相关文献。结果　CFC罕见，临床表现包括特殊面容、先天性心脏病、皮肤系统疾病、生长发育障碍、胃肠功能障碍、神经认知迟缓和癫痫发作等，BRAF等基因纯合或复合杂合突变有助于诊断。目前尚无特效治疗方法，只能针对于临床症状进行多学科对症治疗，长期随访。结论　对于CFC应加强认识，结合其临床表现，早期识别、进行基因检测协助诊断，在治疗方面现仍存在较大挑战。对于存在喂养困难的CFC患儿，辅助喂养至关重要。

关键词: 肠旋转不良, 心-面-皮肤综合征, BRAF基因, 儿童