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A Rare Diagnosis: Keutel Syndrome
Tracheobronchial cartilage calcification is a rare finding in the pediatric population. Keutel syndrome (OMIM 245150) is a very rare syndrome characterized with diffuse calcification of cartilage, brachytelephalangia, pulmonary stenosis, midline defects, stippled epiphysis in infancy, and hearing lo...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Istanbul Medeniyet University
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7433741/ https://www.ncbi.nlm.nih.gov/pubmed/32821457 http://dx.doi.org/10.5222/MMJ.2019.91979 |
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author | Girit, Saniye Senol, Ebru |
author_facet | Girit, Saniye Senol, Ebru |
author_sort | Girit, Saniye |
collection | PubMed |
description | Tracheobronchial cartilage calcification is a rare finding in the pediatric population. Keutel syndrome (OMIM 245150) is a very rare syndrome characterized with diffuse calcification of cartilage, brachytelephalangia, pulmonary stenosis, midline defects, stippled epiphysis in infancy, and hearing loss accompanied by recurrent respiratory infections and asthma-like attacks. Here, we present a 14-year-old patient who was followed up with the diagnosis of asthma, but did not respond to appropriate asthma treatment. She was subsequently diagnosed as having Keutel syndrome with cartilage calcification on the tracheobranchial tree and auricula, atypical facial features, recurrent otitis media, hearing loss, and recurrent asthma-like symptoms. |
format | Online Article Text |
id | pubmed-7433741 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Istanbul Medeniyet University |
record_format | MEDLINE/PubMed |
spelling | pubmed-74337412020-08-19 A Rare Diagnosis: Keutel Syndrome Girit, Saniye Senol, Ebru Medeni Med J Case Report Tracheobronchial cartilage calcification is a rare finding in the pediatric population. Keutel syndrome (OMIM 245150) is a very rare syndrome characterized with diffuse calcification of cartilage, brachytelephalangia, pulmonary stenosis, midline defects, stippled epiphysis in infancy, and hearing loss accompanied by recurrent respiratory infections and asthma-like attacks. Here, we present a 14-year-old patient who was followed up with the diagnosis of asthma, but did not respond to appropriate asthma treatment. She was subsequently diagnosed as having Keutel syndrome with cartilage calcification on the tracheobranchial tree and auricula, atypical facial features, recurrent otitis media, hearing loss, and recurrent asthma-like symptoms. Istanbul Medeniyet University 2019 2019-09-27 /pmc/articles/PMC7433741/ /pubmed/32821457 http://dx.doi.org/10.5222/MMJ.2019.91979 Text en Copyright Istanbul Medeniyet University Faculty of Medicine. http://creativecommons.org/licenses/by-nc/4.0/ This journal is published by Logos Medical Publishing. Licenced by Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0) |
spellingShingle | Case Report Girit, Saniye Senol, Ebru A Rare Diagnosis: Keutel Syndrome |
title | A Rare Diagnosis: Keutel Syndrome |
title_full | A Rare Diagnosis: Keutel Syndrome |
title_fullStr | A Rare Diagnosis: Keutel Syndrome |
title_full_unstemmed | A Rare Diagnosis: Keutel Syndrome |
title_short | A Rare Diagnosis: Keutel Syndrome |
title_sort | rare diagnosis: keutel syndrome |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7433741/ https://www.ncbi.nlm.nih.gov/pubmed/32821457 http://dx.doi.org/10.5222/MMJ.2019.91979 |
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