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- Title
THROMBOCYTOPENIA AND ABSENT RADIUS (TAR) SYNDROME - CASE PRESENTATION.
- Authors
Vesa, Cosmin Mihai; Moisi, Mădălina; Petchesi, Codruta; Popa, Loredana; Mekereş, Florica; Bembea, Marius; Jurca, Claudia Maria
- Abstract
TAR Syndrome is congenital disease produced by a genetic mutation characterized by low platelet count and radial aplasia. We report the interesting case of non-identical twin sisters with TAR Syndrome, in evidence at the Bihor Regional Genetic Centre from "Gavriil Curteanu " Hospital. From clinical examination of the two girls we noted limb shortening as a consequence of radial aplasia and laboratory findings revealed thrombocytopenia. Both sisters had normal intelligence development and no other associated malformations. Differential diagnosis can be made with Fanconi anaemia but it's unlikely because of the presence of normal red blood cells and white blood cells count.
- Subjects
THROMBOCYTOPENIA absent radius syndrome; THROMBOCYTOPENIA; PLATELET count; FANCONI'S anemia; DIFFERENTIAL diagnosis
- Publication
Analele Universitatii din Oradea, Fascicula Ecotoxicologie, Zootehnie si Tehnologii în Industria Alimentara, 2017, Vol 16, Issue Part B, p409
- ISSN
1583-4301
- Publication type
Case Study