| A neonate with severe thrombocytopenia and radio-ulnar synostosis. | |
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MedLine Citation:
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PMID: 15282617 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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:
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Martha C Sola; William B Slayton; Lisa M Rimsza; Jose A Perez; Deborah Fuchs; Deborah Fuch; Darlene A Calhoun; Robert D Christensen |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: Journal of perinatology : official journal of the California Perinatal Association Volume: 24 ISSN: 0743-8346 ISO Abbreviation: J Perinatol Publication Date: 2004 Aug |
Date Detail:
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Created Date: 2004-07-29 Completed Date: 2004-11-26 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 8501884 Medline TA: J Perinatol Country: United States |
Other Details:
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Languages: eng Pagination: 528-30 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Diagnosis, Differential Female Humans Infant, Newborn Platelet Transfusion Radius / abnormalities*, radiography Severity of Illness Index Synostosis / complications, diagnosis*, pathology, radiography, therapy Thrombocytopenia / complications, congenital, diagnosis*, pathology, radiography, therapy Ulna / abnormalities*, radiography |
| Grant Support | |
ID/Acronym/Agency:
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HL-61798/HL/NHLBI NIH HHS; HL-69990/HL/NHLBI NIH HHS |
| Comments/Corrections | |
Erratum In:
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J Perinatol. 2005 Apr;25(4):296 Note: Fuch, Deborah [corrected to Fuchs, Deborah] |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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