Document Detail

Dyskeratosis congenita in an adolescent girl with associated choanal atresia.
MedLine Citation:
PMID:  15660894     Owner:  NLM     Status:  MEDLINE    
Dyskeratosis congenita is a rare, progressive, degenerative disorder characterized by cutaneous and mucosal involvement in the first decade of life with malignant changes and bone marrow failure in the second and third decades. The primary inheritance pattern is X-linked recessive, with the majority of cases presenting in boys. We report dyskeratosis congenita in an adolescent girl with choanal atresia, a previously unreported association.
Elizabeth V Lener; Wynnis L Tom; Bari B Cunningham
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric dermatology     Volume:  22     ISSN:  0736-8046     ISO Abbreviation:  Pediatr Dermatol     Publication Date:    2005 Jan-Feb
Date Detail:
Created Date:  2005-01-21     Completed Date:  2005-06-28     Revised Date:  2009-03-03    
Medline Journal Info:
Nlm Unique ID:  8406799     Medline TA:  Pediatr Dermatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  31-5     Citation Subset:  IM    
Division of Pediatric and Adolescent Dermatology, Children's Hospital, San Diego, California, USA.
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MeSH Terms
Choanal Atresia / complications,  diagnosis*
Dyskeratosis Congenita / complications,  diagnosis*

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