To conclude, this case report, presenting a new case of association of TRPS I-like phenotype with a reciprocal chromosomal translocation which does not disrupt the TRPS1 coding sequence, increases the number of TRPS patients whose pathologic phenotype is caused by a functional disturbance of TRPS1. The clinical and genetic characterisation of the present subject allowed us to make a genetic diagnosis in the context of a known syndrome, contributing to expand the TRPS phenotypic spectrum. This evidence concerns the gene TRPS1 and trichorhinophalangeal syndrome.