منابع مشابه
Thrombocytopenia absent radius (TAR) syndrome.
AIM The aim of the work was a presentation of one case with Thrombocytopenia absent radius (TAR) syndrome. METHODS Diagnosis of TAR syndrome has been established on the basis of pedigree, laboratory findings (hemogram, platelet count, peripheral smear), bone marrow biopsy, radiological examination and karyotype. RESULTS A patient was a two months old female child, hospitalized due petechial...
متن کاملPrenatal diagnosis of thrombocytopenia-absent radius syndrome.
Thrombocytopenia-absent radius (TAR) syndrome is an autosomal-recessive disorder characterized by a thrombocytopenia and a bilateral radial aplasia with normal thumbs. Only TAR syndrome, out of diseases which may present with radial aplasia, typically has normal thumbs. The prenatal diagnosis is rarely made. We report two observations of TAR syndrome diagnosed in utero in the sibling. The malpo...
متن کاملPrenatal diagnosis of thrombocytopenia-absent radius syndrome
The prenatal diagnosis of thrombocytopeniaabsent radius (TAR) syndrome by ultrasound is established. The sonographic findings showed bilateral absence of the radii and club hands with normal thumbs and metacarpals. Thrombocytopenia was identified from the postabortal cord blood. Three-dimensional computerized tomography images confirmed the sonographic diagnosis. This report, to our knowledge, ...
متن کاملThrombocytopenia-absent radius syndrome: prenatal diagnosis of a rare syndrome
Radiol Bras. 2016 Mar/Abr;49(2):126–132 128 http://dx.doi.org/10.1590/0100-3984.2015.0063 found in males, at a ratio of 2–3:1, and can be diagnosed at any age. The pancake kidney malformation results from complete medial fusion of the metanephric blastema at an early stage of embryonic development and is characterized by a single, flat, nonreniform mass, in a medial position within the pelvic c...
متن کاملThrombocytopenia with Unilateral Dysplastic Radius- Is it Thrombocytopenia - Absent Radius (TAR) Syndrome?
Thrombocytopenia - absent radii (TAR) syndrome is an autosomal recessive genetic rare disorder with hypomegakaryocytic thrombocytopenia and bilateral absent radius that may have additional anomalies. This disorder is characterized by thrombocytopenia resulting in potentially severe bleeding episodes primarily during infancy. We report the case of a 7-day-old term appropriate for gestational age...
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ژورنال
عنوان ژورنال: Seminars in Thrombosis and Hemostasis
سال: 2011
ISSN: 0094-6176,1098-9064
DOI: 10.1055/s-0031-1291381