Thrombocytopenia with Absent Radii (TAR) Syndrome Without Significant Thrombocytopenia

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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...

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Progressive nodular histiocytoma associated with thrombocytopenia with absent radii (TAR syndrome) and angiofibromas.

A 50-year-old woman was admitted due to a long-standing history of cutaneous lesions, which were gradually increasing in number and size, located on the trunk and extremities. Histological studies confirmed the initial clinical diagnosis of histiocytomas. Moreover, the patient had numerous smooth erythematous papules on her chin and around her nose, which were diagnosed histologically as angiof...

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Thrombocytopenia and absent radii (TAR) syndrome associated with bilateral congenital cataract: a case report

INTRODUCTION Thrombocytopenia with absent radii is a rare congenital defect with hypomegakaryocytic thrombocytopenia and bilateral radial aplasia that may have additional anomalies. We report the case of a girl baby with thrombocytopenia and absent radii syndrome and bilateral congenital cataract. This anomaly has not been previously reported in the children of a non- consanguineous marriage. ...

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Thrombocytopenia 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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Thrombocytopenia 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: Cureus

سال: 2020

ISSN: 2168-8184

DOI: 10.7759/cureus.10557