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. 2009 Jul;26(3):92-4.
doi: 10.4103/0970-2113.53234.

Bloom syndrome with lung involvement

Girija Nair  1 , Ivona Lobo, T K Jayalaksmi, Abhay Uppe, Savita Jindal, Abhishek Chandra, Shivani Swami
Affiliations

Bloom syndrome with lung involvement

Girija Nair et al. Lung India. 2009 Jul.

Abstract

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.

Keywords: Bloom's syndrome; consanguinous parentage; growth retardation; respiratory infections; telangiectasia.

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Conflict of interest statement

Conflict of Interest: None declared.

Figures

Figure 1
Figure 1
Telangiectasia over cheeks and nose and prominent nose, dolicocephaly
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References

    1. German J. Bloom Syndrome: A Mendelian prototype of somatic mutational disease. Medicine. 1993;72:393–406. - PubMed
    1. Bloom D. Congenital telengiectatic erythema resembling lupus erythematosus in dwarfs. Am J Dis Child. 1954;88:754–8. - PubMed
    1. Shahrabani-Gargir L, Shomrat R, Yaron Y, Orr-Urtreger A, Groden J, Legum C. High frequency of a common bloom syndrome DNA helicase. BMC Cell Biol. 2003;4:15.
    1. German J. Bloom's syndrome. Dermatol Clin. 1995;13:7–18. - PubMed