Familial primary spontaneous pneumothorax consistent with true autosomal dominant inheritance

A family exhibiting spontaneous pneumothorax in a father and three offspring (two sons, and one daughter) is described. The mode of inheritance is apparently autosomal dominant with two episodes of male to male transmission in one family. The age of onset varied by up to 13 years within the family....

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Bibliographic Details
Published in:Thorax 1998-02, Vol.53 (2), p.151-152
Main Authors: Morrison, P J, Lowry, R C, Nevin, N C
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age of Onset
Biological and medical sciences
Case Reports
Female
Genes, Dominant
Humans
Lung - physiopathology
Male
Medical sciences
Pedigree
Pneumology
Pneumothorax - genetics
Pneumothorax - physiopathology
Respiratory Function Tests
Respiratory system : syndromes and miscellaneous diseases
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Summary:A family exhibiting spontaneous pneumothorax in a father and three offspring (two sons, and one daughter) is described. The mode of inheritance is apparently autosomal dominant with two episodes of male to male transmission in one family. The age of onset varied by up to 13 years within the family. Isolated autosomal dominant pneumothorax appears to be a distinct clinical entity.
ISSN:0040-6376
1468-3296
DOI:10.1136/thx.53.2.151