Hazan F, Aykut A, Hizarcioglu M, Tavli V, Onay H, Ozkinay F
Department of Medical Genetics, Dr. Behcet Uz Children's Hospital, Izmir, Turkey.
Genet Couns. 2012;23(2):305-11.
Cardio-facio-cutaneous syndrome (CFCS) is a multiple congenital anomaly disorder characterized by craniofacial features, cardiac defects, ectodermal anomalies and neurocognitive delay. Clinical findings of patients with CFCS show similarities to those of patients with Costello Syndrome (CS). CFCS and CS are caused by mutations in genes encoding proteins of the RAS-MAPK signaling pathway. Musculoskeletal findings including tight Achilles tendons and contractures of elbows, shoulders or hips have been reported in CS patients. However, limited extension of joints were observed in some patients with CFCS. According to the literature, no tight Achilles tendons have been reported in CFCS patients so far. In this case report, we present a male CFCS patient with tight Achilles tendons with a de-novo heterozygote N581D mutation in the BRAF gene detected by DNA sequence analysis.
心脏-颜面-皮肤综合征（CFCS）是一种多发性先天性异常疾病，其特征为颅面特征、心脏缺陷、外胚层异常和神经认知发育迟缓。CFCS患者的临床表现与科斯特洛综合征（CS）患者相似。CFCS和CS是由RAS-MAPK信号通路中蛋白质编码基因突变引起的。CS患者曾有包括跟腱紧张以及肘、肩或髋关节挛缩在内的肌肉骨骼表现的报道。然而，在一些CFCS患者中观察到关节伸展受限。据文献报道，迄今为止CFCS患者中尚未有跟腱紧张的情况。在本病例报告中，我们呈现了一名患有跟腱紧张的男性CFCS患者，通过DNA序列分析检测到其BRAF基因存在新发杂合子N581D突变。
