Cockayne's syndrome and emphysema.
- 1 September 1978
- journal article
- research article
- Published by BMJ in Archives of Disease in Childhood
- Vol. 53 (9) , 722-725
- https://doi.org/10.1136/adc.53.9.722
Abstract
A 5 yr old boy with Cockayne''s syndrome is described. In addition to the recognized clinical features, he presented with severe fixed airways obstruction, and investigations confirmed clinical and physiological emphysema. In a disorder associated with many features of aging, it is probable 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.This publication has 20 references indexed in Scilit:
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