Article
A cardio-facio-cutaneous syndrome case with tight Achilles tendons.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2012
Hazan F, Aykut A, Hizarcioglu M, Tavli V, Onay H, Ozkinay F
Abstract excerpt
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...
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