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 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...
متن کاملThrombocytopenia and absent radius (TAR) syndrome in pregnancy.
To cite: Pereira E, Regalo A, Caseiro L, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2015-212088 DESCRIPTION A healthy 36-year-old Caucasian woman, P2002, a non-smoker who did not consume alcohol, with no history of exposure to teratogenic agents, presented, at a gestational age of 15 weeks, for prenatal care at our hospital. Ultrasound findings showed...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1977
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.52.1.83