| Tracheobronchial stenosis in Keutel syndrome. | |
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MedLine Citation:
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PMID: 11405537 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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In 1971 Keutel et al. described a new syndrome in two siblings presenting with peripheral pulmonary stenoses, brachytelephalangism, neural hearing loss and abnormal cartilage calcification. Recent investigations provided evidence that mutations in the gene encoding the human matrix GLA protein cause Keutel syndrome. With these new insights in the disease the symptomatology of Keutel syndrome was reassessed. The follow-up of the two siblings was studied by clinical and post mortem examination. As a new feature of Keutel syndrome tracheobronchial stenosis and concentric calcification of pulmonary, coronary, hepatic, renal, meningeal and cerebral arteries were described. Complementary to the results in molecular genetics the symptomatology of Keutel syndrome could be revised by clinical and post mortem examination. |
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Authors:
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M Meier; L P Weng; E Alexandrakis; J Rüschoff; G Goeckenjan |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: The European respiratory journal : official journal of the European Society for Clinical Respiratory Physiology Volume: 17 ISSN: 0903-1936 ISO Abbreviation: Eur. Respir. J. Publication Date: 2001 Mar |
Date Detail:
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Created Date: 2001-06-14 Completed Date: 2002-05-03 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 8803460 Medline TA: Eur Respir J Country: Denmark |
Other Details:
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Languages: eng Pagination: 566-9 Citation Subset: IM |
Affiliation:
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Clinic of Pneumology, Immenhausen, Germany. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis* Adult Bone and Bones / abnormalities* Bronchial Diseases / diagnosis* Constriction, Pathologic Female Follow-Up Studies Hearing Loss, Sensorineural / diagnosis* Humans Male Syndrome Tracheal Stenosis / diagnosis* |
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