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
Descripción
Sumario: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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