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...

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Bibliographic Details
Published inMedeniyet medical journal Vol. 34; no. 3; pp. 329 - 332
Main Authors Girit, Saniye, Senol, Ebru
Format Journal Article
LanguageEnglish
Published Turkey Istanbul Medeniyet University 2019
Subjects
Case Report
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Summary: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.
Bibliography:Cite as: Girit S, Senol E. A rare diagnosis: Keutel syndrome. Medeniyet Med J. 2019;34:329-32.
Confillict of Interest: The authors declare that they have no conflict of interest.
Funding: None.
Ethics Committee Aproval: Not Applicable.
Informed Concent: Informed consent was taken.
ISSN:2149-2042
2149-4606
DOI:10.5222/MMJ.2019.91979