Prenatal diagnosis of thrombocytopenia-absent radius syndrome
نویسنده
چکیده
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, is one of the few cases published in the literature about the prenatal diagnosis of TAR syndrome.
منابع مشابه
Prenatal 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 کاملThrombocytopenia 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 detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334‑kb deletion: a case report.
Thrombocytopenia‑absent radius syndrome (TAR) is a rare genetic disorder that is characterized by the absence of the radius bone in each forearm and a markedly reduced platelet count that results in life‑threatening bleeding episodes (thrombocytopenia). Tar syndrome has been associated with a deletion of a segment of 1q21.1 cytoband. The 1q21.1 deletion syndrome phenotype includes Tar and other...
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...
متن کاملگزارش 3 مورد سندرم تار(ترومبوسیتوپنی همراه با فقدان استخوان رادیوس) در بیمارستان حضرت علی اصغر(ع)
TAR syndrome (thrombocytopenia-Absent Radii) is characterised by the neonatal onset thrombocytopenia and bilateral absence or hypoplasia of the radii with normal organs. This syndrome is a rare hereditary condition with a recessive autosomal character. During the first months of life, prognosis is related to the severity of hemorrhage. This paper focuses on three infants who suffered from T...
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تاریخ انتشار 2012