Document Detail


Severe tracheobronchial stenosis in the X-linked recessive form of chondrodysplasia punctata.
MedLine Citation:
PMID:  15611404     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The X-linked recessive form of chondrodysplasia punctata, characterized by chondrodysplasia and punctate calcification of cartilage, is caused by a defect in the vitamin K-dependent enzyme arylsulfatase E. We herein describe a male infant with chondrodysplasia punctata and stenosis and calcification of the entire trachea and main bronchi. To our knowledge, this is the first case of chondrodysplasia punctata reported in the English literature with such extensive airway manifestations.
Authors:
Matthew E Wolpoe; Nancy Braverman; Sandra Y Lin
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Archives of otolaryngology--head & neck surgery     Volume:  130     ISSN:  0886-4470     ISO Abbreviation:  Arch. Otolaryngol. Head Neck Surg.     Publication Date:  2004 Dec 
Date Detail:
Created Date:  2004-12-21     Completed Date:  2005-01-21     Revised Date:  2006-03-28    
Medline Journal Info:
Nlm Unique ID:  8603209     Medline TA:  Arch Otolaryngol Head Neck Surg     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1423-6     Citation Subset:  AIM; IM    
Affiliation:
Department of Otolaryngology-Head & Neck Surgery and McKusick-Nathans Institute for Genetic Medicine, The Johns Hopkins School of Medicine, Baltimore, MD, USA.
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MeSH Terms
Descriptor/Qualifier:
Bronchial Diseases / complications*,  radiography
Chondrodysplasia Punctata / complications,  genetics*,  radiography
Constriction, Pathologic
Genes, Recessive
Humans
Infant, Newborn
Linkage (Genetics)
Male
Tracheal Stenosis / complications*,  radiography

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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