Is the Gardner syndrome a separate disease? (author's transl).
A family, the members of which suffer from "Gardner's syndrome" is reported. In this family, and also in another family which is being treated in our clinic with a diagnosis of "familial polyposis of the large intestine", bronchiectasis appears with a frequency more than can be attributed to chance. Our observations suggest the following conclusions: 1. Gardner's syndrome and familial polyposis of the large intestine are diseases which cannot be strictly separated from each other, but the isolated intestinal polyposis is a monosymptomatic form of Gardner's syndrome. 2. Bronchiectasis can be considered a further symptom of this disease caused by a pleiotropic effect of a gene.
D000328:Adult; D001859:Bone Neoplasms / Q000235:genetics; D001987:Bronchiectasis / Q000150:complications / Q000235:genetics; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003110:Colonic Neoplasms / Q000150:complications / Q000235:genetics; D005260:Female; D006801:Humans; D007417:Intestinal Polyps / Q000150:complications / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D010018:Osteomalacia / Q000235:genetics*; D010375:Pedigree; D012878:Skin Neoplasms / Q000150:complications / Q000235:genetics; D013577:Syndrome
Ist das Gardner-Syndrom ein selbständiges Krankheitsbild