Arch Dis Child. 1978 Sep;53(9):722-5.

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.

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PMCID:: PMC1545117

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