Document Detail

CAMT in a female with developmental delay, facial malformations and central nervous system anomalies.
MedLine Citation:
PMID:  21225925     Owner:  NLM     Status:  In-Process    
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare disorder characterized by thrombocytopenia and absence or decline in the number of megakaryocytic precursors in the bone marrow. It is caused by mutations in the thrombopoietin receptor gene, c-mpl, involved in the proliferation and differentiation of megakaryocytes and platelets. The association between CAMT and central nervous system (CNS) anomalies has been reported in the literature, albeit not very frequently. Here we present a unique case where CAMT appeared associated to cerebellum agenesis, hypoplasia of the corpus callosum and brainstem, facial malformations, and developmental delay.
Nazareth Martinón-Torres; Manuel Vázquez-Donsión; Lourdes Loidi; Jose Miguel Couselo
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Publication Detail:
Type:  Journal Article     Date:  2010-11-12
Journal Detail:
Title:  Pediatric blood & cancer     Volume:  56     ISSN:  1545-5017     ISO Abbreviation:  Pediatr Blood Cancer     Publication Date:  2011 Mar 
Date Detail:
Created Date:  2011-01-12     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101186624     Medline TA:  Pediatr Blood Cancer     Country:  United States    
Other Details:
Languages:  eng     Pagination:  452-3     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 Wiley-Liss, Inc.
Pediatric Hematology and Oncology Unit, Hospital Clínico Universitario de Santiago de Compostela, Spain.
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