Bloom syndrome with lung involvement

We report a case of a 24-year old male presented with cough and breathlessness with diabetes mellitus and diagnosed as a case of bloom syndrome. He was a product of consanguineous marriage, having short stature, dolicocephaly, polydactyly, prominent nose with telangiectasia face. The respiratory sys...

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Detalles Bibliográficos
Autores principales: Nair, Girija, Lobo, Ivona, Jayalaksmi, T. K., Uppe, Abhay, Jindal, Savita, Chandra, Abhishek, Swami, Shivani
Formato: Texto
Lenguaje:English
Publicado: Medknow Publications 2009
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2862515/
https://www.ncbi.nlm.nih.gov/pubmed/20442845
http://dx.doi.org/10.4103/0970-2113.53234
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author Nair, Girija
Lobo, Ivona
Jayalaksmi, T. K.
Uppe, Abhay
Jindal, Savita
Chandra, Abhishek
Swami, Shivani
author_facet Nair, Girija
Lobo, Ivona
Jayalaksmi, T. K.
Uppe, Abhay
Jindal, Savita
Chandra, Abhishek
Swami, Shivani
author_sort Nair, Girija
collection PubMed
description We report a case of a 24-year old male presented with cough and breathlessness with diabetes mellitus and diagnosed as a case of bloom syndrome. He was a product of consanguineous marriage, having short stature, dolicocephaly, polydactyly, prominent nose with telangiectasia face. The respiratory system examination revealed bilateral coarse crepitations and wheezes and the chest X-ray revealed emphysema with right middle zone inhomogenous opacity. Also, CT thorax examination revealed bilateral cystic bronchiectasis with bronchiolitis obliterans. Bloom's syndrome was diagnosed on the basis of clinical features.
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spelling pubmed-28625152010-05-04 Bloom syndrome with lung involvement Nair, Girija Lobo, Ivona Jayalaksmi, T. K. Uppe, Abhay Jindal, Savita Chandra, Abhishek Swami, Shivani Lung India Case Report We report a case of a 24-year old male presented with cough and breathlessness with diabetes mellitus and diagnosed as a case of bloom syndrome. He was a product of consanguineous marriage, having short stature, dolicocephaly, polydactyly, prominent nose with telangiectasia face. The respiratory system examination revealed bilateral coarse crepitations and wheezes and the chest X-ray revealed emphysema with right middle zone inhomogenous opacity. Also, CT thorax examination revealed bilateral cystic bronchiectasis with bronchiolitis obliterans. Bloom's syndrome was diagnosed on the basis of clinical features. Medknow Publications 2009 /pmc/articles/PMC2862515/ /pubmed/20442845 http://dx.doi.org/10.4103/0970-2113.53234 Text en © Lung India http://creativecommons.org/licenses/by/2.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Nair, Girija
Lobo, Ivona
Jayalaksmi, T. K.
Uppe, Abhay
Jindal, Savita
Chandra, Abhishek
Swami, Shivani
Bloom syndrome with lung involvement
title Bloom syndrome with lung involvement
title_full Bloom syndrome with lung involvement
title_fullStr Bloom syndrome with lung involvement
title_full_unstemmed Bloom syndrome with lung involvement
title_short Bloom syndrome with lung involvement
title_sort bloom syndrome with lung involvement
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2862515/
https://www.ncbi.nlm.nih.gov/pubmed/20442845
http://dx.doi.org/10.4103/0970-2113.53234
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AT loboivona bloomsyndromewithlunginvolvement
AT jayalaksmitk bloomsyndromewithlunginvolvement
AT uppeabhay bloomsyndromewithlunginvolvement
AT jindalsavita bloomsyndromewithlunginvolvement
AT chandraabhishek bloomsyndromewithlunginvolvement
AT swamishivani bloomsyndromewithlunginvolvement

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