A CARDIO-FACIO-CUTANEOUS SYNDROME CASE WITH TIGHT ACHILLES TENDONS

作者：Hazan F^*; Aykut A; Hizarcioglu M; Tavli V; Onay H; Ozkinay F

来源：Genetic Counseling, 2012, 23(2): 305-311.

• Cardio-facio-cutaneous syndrome
• Tight Achilles tendons
• BRAF gene

A cardio-facio-cutaneons syndrome case with tight Achilles tendons: 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.

• 出版日期2012