title: Familial primary spontaneous pneumothorax consistent with true autosomal dominant inheritance.
abstract: 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.
authors.affiliation: Department of Medical Genetics, Belfast City Hospital Trust, UK.
authors.forename: P J
authors.initials: PJ
authors.lastname: Morrison
authors.forename: R C
authors.initials: RC
authors.lastname: Lowry
authors.forename: N C
authors.initials: NC
authors.lastname: Nevin
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008168:Lung / Q000503:physiopathology; D008297:Male; D010375:Pedigree; D011030:Pneumothorax / Q000235:genetics* / Q000503:physiopathology; D012129:Respiratory Function Tests