Síndrome TAR en paciente adulto sin diagnóstico previo: presentación de un caso
TAR syndrome in an adult patient without previous diagnosis, a case report
Actual. osteol; 12 (2), 2016
Publication year: 2016
El síndrome TAR (Thrombocytopenia with Absent Radius) es una patología congénita
autosómica recesiva infrecuente, caracterizada por trombocitopenia con aplasia de radio
bilateral. Incluye malformaciones esqueléticas, renales, hematológicas y cardíacas. Su base
genética todavía no está clara. Presentamos el caso de una paciente sin diagnóstico previo
de síndrome TAR que llega a la consulta, tras haber sido evaluada por varios profesionales
médicos, para el diagnóstico y el tratamiento de trastornos hematológicos, que finalmente
estuvieron asociados a su síndrome congénito. (AU)
Thrombocytopenia with Absent Radius (TAR) is a rare autosomic recessive disease
characterized by thrombocytopenia and bilateral radial aplasia, which includes skeletal,
hematologic, renal and cardiac abnormalities.
The genetics bases of this syndrome remain unclear. We report here a patient without a
previous diagnosis of TAR syndrome who was seen in the clinic, after being evaluated by several medical professionals for diagnosis and treatment of blood disorders, which
eventually were associated with the congenital syndrome. (AU)