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一名患有血小板减少症/桡骨缺失(Tar)综合征的患者出现急性淋巴细胞白血病。

Acute lymphoidic leukemia in a patient with thrombocytopenia/absent radii (Tar) syndrome.

作者信息

Camitta B M, Rock A

机构信息

Department of Pediatrics, Medical College of Wisconsin, Milwaukee.

出版信息

Am J Pediatr Hematol Oncol. 1993 Aug;15(3):335-7.

PMID:8328649
Abstract

PURPOSE

Patients with thrombocytopenia, absent radii (TAR) syndrome have a spontaneous amelioration of thrombocytopenia after infancy. No individual with the syndrome has been reported to develop subsequent bone marrow disease.

PATIENTS AND METHODS

We report a child with TAR syndrome who developed acute lymphoidic leukemia.

RESULTS AND CONCLUSIONS

The TAR syndrome may predispose patients to other forms of marrow disease (as do other inherited marrow failure diseases). Additional cases are needed to confirm this hypothesis.

摘要

目的

血小板减少伴桡骨缺失(TAR)综合征患者在婴儿期后血小板减少会自发改善。尚无该综合征患者继发骨髓疾病的报道。

患者与方法

我们报告了一名患有TAR综合征并发展为急性淋巴细胞白血病的儿童。

结果与结论

TAR综合征可能使患者易患其他形式的骨髓疾病(其他遗传性骨髓衰竭疾病也是如此)。需要更多病例来证实这一假设。

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Acute lymphoidic leukemia in a patient with thrombocytopenia/absent radii (Tar) syndrome.一名患有血小板减少症/桡骨缺失(Tar)综合征的患者出现急性淋巴细胞白血病。
Am J Pediatr Hematol Oncol. 1993 Aug;15(3):335-7.
2
A case of thrombocytopenia with absent radii (TAR syndrome).一例桡骨缺如伴血小板减少症(TAR综合征)。
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Intermittent thrombocytopenia and absent radii: report of a patient with additional unusual manifestations.间歇性血小板减少症与桡骨缺失:一例伴有其他异常表现患者的报告
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Thrombocytopenia-absent radius (tar) syndrome: a case with agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney.血小板减少伴桡骨缺如(TAR)综合征:一例伴有胼胝体发育不全、小脑蚓部发育不全和马蹄肾的病例。
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[Thrombocytopenia and absent radii syndrome (TAR). Case report and literature discussion].[血小板减少伴桡骨缺如综合征(TAR)。病例报告及文献讨论]
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[Thrombocytopenia with absence of the radius in a 24-year-old woman].[一名24岁女性患血小板减少症并伴有桡骨缺失]
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[Thrombocytopenia with bilateral absence of the radius (TAR syndrome). Reports of 2 clinical cases].[血小板减少伴双侧桡骨缺如(TAR综合征)。2例临床病例报告]
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Inherited thrombocytopenia: Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii.遗传性血小板减少症:先天性无巨核细胞性血小板减少症和桡骨缺如性血小板减少症。
Semin Hematol. 2006 Jul;43(3):196-203. doi: 10.1053/j.seminhematol.2006.04.003.

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Lessons From Pediatric MDS: Approaches to Germline Predisposition to Hematologic Malignancies.儿童骨髓增生异常综合征的经验教训:遗传性易患血液系统恶性肿瘤的研究方法
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Missing Cells: Pathophysiology, Diagnosis, and Management of (Pan)Cytopenia in Childhood.
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Front Pediatr. 2015 Jul 13;3:64. doi: 10.3389/fped.2015.00064. eCollection 2015.
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Genetics of familial forms of thrombocytopenia.血小板减少症家族形式的遗传学。
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Two patterns of thrombopoietin signaling suggest no coupling between platelet production and thrombopoietin reactivity in thrombocytopenia-absent radii syndrome.两种血小板生成素信号模式表明,在血小板减少性桡骨缺失综合征中,血小板生成与血小板生成素反应之间没有偶联。
Haematologica. 2012 Jan;97(1):73-81. doi: 10.3324/haematol.2011.049619. Epub 2011 Sep 20.
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Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii.先天性无巨核细胞性血小板减少症和桡骨缺如性血小板减少症。
Hematol Oncol Clin North Am. 2009 Apr;23(2):321-31. doi: 10.1016/j.hoc.2009.01.012.
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Acute myeloid leukemia in TAR syndrome.血小板减少伴桡骨缺失综合征中的急性髓系白血病
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