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Report of a Case of Thrombocitopenic Syndrome with Radius Aplasia with a 16 Year Follow up in Celaya, Mexico, and Review of Literature

Author(s): Raúl Puente, Paredes Rogelio, Daniela Rico Medina, Verónica Guarner-Lans, Oscar Emanuel Grimaldo

There are numerous published works on thrombocytopenic syndrome with radius aplasia. Most of them refer to cases or families with several affected individuals without giving them follow-up. Here we report the follow up of a patient with the syndrome. The clinical manifestations found in the patient are not classical since thrombocytopenic syndrome with Radius Aplasia does not usually have bilateral agenesis of radius and ulna at birth as is shown in this case. In addition, the musculoskeletal manifestations in this patient were present 16 years afterwards. Therefore, the phenotypic expression of this syndrome in the present case is of great interest.

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