[Tatton-Brown-Rahman Syndrome: Case report and DNMT3A variant not previously reported associated to the syndrome].

Unlabelled: Tatton Brown Rahman Syndrome (TBRS) is a recently described overgrowth syndrome caused by variants in the DNMT3A gene. The description of its phenotype and the differences with its main differential diagnoses are still under development, with very few individuals of Latin American origin described to date.

Objective: To describe a Chilean case of TBRS in order to broaden the phenotypic and genotypic spectrum of this new syndrome.