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Lung India Official publication of Indian Chest Society  
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Year : 2009  |  Volume : 26  |  Issue : 3  |  Page : 92-94

Bloom syndrome with lung involvement

Department of Tuberculosis and Chest, Dr. D. Y. Patil Medical College, India

Correspondence Address:
Girija Nair
Department of Tuberculosis and Chest Diseases, Dr. D. Y. Patil Medical College, Sector 5, Nerul, Navi Mumbai, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0970-2113.53234

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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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