Cockayne's syndrome and emphysema.

Abstract:

:A 5-year-old boy with Cockayne's syndrome is described. In addition to the recognised clinical features, he presented with severe fixed airways obstruction, and investigations confirmed clinical and physiological emphysema. In a disorder associated with many of the features of aging, it is probably that the presence of relative alpha-1-antitrypsin deficiency (1.5 g/l) in a child with PiMZ phenotype, contributed to his severe lung disease.

journal_name

Arch Dis Child

authors

Cunningham M,Godfrey S,Moffat WM

doi

10.1136/adc.53.9.722

subject

Has Abstract

pub_date

1978-09-01 00:00:00

pages

722-5

issue

9

eissn

0003-9888

issn

1468-2044

journal_volume

53

pub_type

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