A neonate with severe thrombocytopenia and radio-ulnar synostosis

被引：10

作者：

Sola M.C. ^{[2
]}

Slayton W.B. ^{[2
]}

Rimsza L.M. ^{[4
]}

Perez J.A. ^{[3
]}

Fuch D. ^{[4
]}

Calhoun D.A. ^{[1
]}

Christensen R.D. ^{[1
,5
]}

机构：

[1] Department of Pediatrics, Univ. of South Florida Coll. of Med., St. Petersburg, FL

[2] Department of Pediatrics, Univ. of Florida College of Medicine, Gainesville, FL

[3] Department of Pediatrics, Arnold Palmer Hosp. for Women/Child., Orlando, FL

[4] Department of Pathology, Univ. of Arizona College of Medicine, Tucson, AZ

[5] All Children's Hospital, St. Petersburg, FL 33701

来源：

Journal of Perinatology | 2004年 / 24卷 / 8期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1038/sj.jp.7211134

中图分类号：

学科分类号：

摘要：

Bone marrow failure syndromes can be associated with abnormalities of the forearms. We observed a neonate with congenital thrombocytopenia who had bilateral radio-ulnar synostosis and fifth finger clinodactly. We performed an evaluation of the mechanism causing the thrombocytopenia using a combination of direct and indirect measures of thrombopoiesis. These tests indicated decreased platelet production. This entity of congenital hyporegenerative thrombocytopenia with bilateral radio-ulnar svnostosis and fifth-finger clinodactly is an uncommon but easily recognizable form of congenital amegakaryocytic thrombocytopenia (CAMT). This entity can be distinguished from the TAR syndrome (thrombocytopenia and absent radii) by the distinctive orthopedic issues, different underlying genetic mutations, and a more worrisome prognosis for CAMT than for TAR. © 2004 Nature Publishing Group. All rights reserved.

引用

页码：528 / 530

页数：2

共 14 条

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