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  • Perinatal/Neonatal Case Presentation
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Perinatal/Neonatal Case Presentation

A Neonate with Severe Thrombocytopenia and Radio-Ulnar Synostosis

Journal of Perinatology volume 24, pages 528–530 (2004)Cite this article

A Corrigendum to this article was published on 23 March 2005

Abstract

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 synostosis 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.

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Authors and Affiliations

  1. Department of Pediatrics, University of South Florida College of Medicine, St. Petersburg, FL, USA

    Darlene A Calhoun DO & Robert D Christensen MD

  2. Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL, USA

    Martha C Sola MD & William B Slayton MD

  3. Department of Pediatrics, Arnold Palmer Hospital for Women and Children, Orlando, FL, USA

    Jose A Perez MD

  4. Department of Pathology, University of Arizona College of Medicine, Tucson, AZ, USA

    Lisa M Rimsza MD & Deborah Fuch MD

Authors
  1. Martha C Sola MD
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  2. William B Slayton MD
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  3. Lisa M Rimsza MD
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  4. Jose A Perez MD
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  5. Deborah Fuch MD
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  6. Darlene A Calhoun DO
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  7. Robert D Christensen MD
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Additional information

Supported by NIH HL-61798 and HL-69990.

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Sola, M., Slayton, W., Rimsza, L. et al. A Neonate with Severe Thrombocytopenia and Radio-Ulnar Synostosis. J Perinatol 24, 528–530 (2004). https://doi.org/10.1038/sj.jp.7211134

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