Síndrome TAR en paciente adulto sin diagnóstico previo: presentación de un caso / TAR syndrome in an adult patient without previous diagnosis, a case report

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)

A case of Edward syndrome with radius aplasia / 대한산부인과학회잡지

Trisomy 18 is the second most common chromosomal anomaly that reach to live birth after Down syndrome. Several methods were proposed to screen patients on the risk of Edward syndrome like maternal serum levels using total human chorionic gonadotropin (hCG), alpha-fetoprotein (AFP) and unconjugated estriol (uE3), or free beta hCG with AFP, but the serum screening has only 50-60% detection rate with a 1-2% of false positive rate. So to cover the limitations that serum marker has, detailed ultrasound examination is also necessary and sensitivities of 65-70% were reported. We report a case of trisomy 18 fetus in which second trimester triple markers of maternal serum was normal, but by detailed ultrasound examination, unilateral radius aplasia was diagnosed cytogenetic study confirmed the fetus as trisomy 18.