| Severe tracheobronchial stenosis in the X-linked recessive form of chondrodysplasia punctata. | |
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MedLine Citation:
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PMID: 15611404 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Matthew E Wolpoe; Nancy Braverman; Sandra Y Lin |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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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:
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Created Date: 2004-12-21 Completed Date: 2005-01-21 Revised Date: 2006-03-28 |
Medline Journal Info:
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Nlm Unique ID: 8603209 Medline TA: Arch Otolaryngol Head Neck Surg Country: United States |
Other Details:
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Languages: eng Pagination: 1423-6 Citation Subset: AIM; IM |
Affiliation:
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Department of Otolaryngology-Head & Neck Surgery and McKusick-Nathans Institute for Genetic Medicine, The Johns Hopkins School of Medicine, Baltimore, MD, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Bronchial Diseases
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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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