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Rubinstein–Taybi syndrome (RTS) is characterized by mental retardation, broad thumbs and great toes and a recognizable craniofacial phenotype. Causative mutations have been described in the CREBBP and EP300 genes. Here we present a 19‐year‐old woman and an unrelated 3‐year‐old boy, both with broad thumbs and halluces, but with facial aspects distinct from those of typical RTS. The woman had a marked...