A neonate with severe thrombocytopenia and radio-ulnar synostosis

Martha C. Sola, William B. Slayton, Lisa M. Rimsza, Jose A. Perez, Deborah Fuch, Darlene A. Calhoun, Robert D. Christensen

Research output: Contribution to journalArticle

17 Scopus citations

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 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.

Original languageEnglish (US)
Pages (from-to)528-530
Number of pages3
JournalJournal of Perinatology
Volume24
Issue number8
DOIs
StatePublished - Aug 2004

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Obstetrics and Gynecology

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    Sola, M. C., Slayton, W. B., Rimsza, L. M., Perez, J. A., Fuch, D., Calhoun, D. A., & Christensen, R. D. (2004). A neonate with severe thrombocytopenia and radio-ulnar synostosis. Journal of Perinatology, 24(8), 528-530. https://doi.org/10.1038/sj.jp.7211134