Document Detail

A new autosomal recessive syndrome. Early onset of pancytopenia, distinct facial features, growth retardation and developmental delay.
MedLine Citation:
PMID:  11802189     Owner:  NLM     Status:  MEDLINE    
The association of dysmorphic features and failure of one or more bone marrow cell lines is well known. Examples are Fanconi's anemia and Diamond-Blackfan anemia. This report describes 3 similarly affected children from consanguineous parents, all showing low birth weight, severe growth retardation, distinct facial features, microcephaly, mental retardation and onset of severe pancytopenia in infancy without increased chromosomal breakage. We conclude that these cases represent a new familial autosomal recessive bone marrow failure syndrome.
F S Al-Batniji; M A Mahmoud; P J Van Dijken; R H Al-Asiri; A F Al-Swaid; A M Al-Marshedy
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Saudi medical journal     Volume:  22     ISSN:  0379-5284     ISO Abbreviation:  Saudi Med J     Publication Date:  2001 Dec 
Date Detail:
Created Date:  2002-01-21     Completed Date:  2002-03-15     Revised Date:  2008-06-23    
Medline Journal Info:
Nlm Unique ID:  7909441     Medline TA:  Saudi Med J     Country:  Saudi Arabia    
Other Details:
Languages:  eng     Pagination:  1122-6     Citation Subset:  IM    
Department of Pediatrics, Armed Forces Hospital, PO Box 7897, Riyadh 11159, Kingdom of Saudi Arabia.
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MeSH Terms
Age of Onset
Anemia, Aplastic
Birth Weight
Bone Marrow Diseases / genetics*
Developmental Disabilities*
Growth Disorders / genetics*
Pancytopenia / genetics*

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