Gardner syndrome: Study and follow-up of a family

G. L. Kratzer, A. Kasumi, A. J. Krush

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


A study is in progress of a family (Family P) with Gardner syndrome (familial adenomatous polyposis with extraintestinal manifestations-FAPG). Occult bone lesions of the jaws and ocular fundus lesions were found in a number of affected and at-risk relatives. In some, these 'markers' were found early in life before the appearance of colonic polyps. Family P is remarkable for differences in expression of the gene manifested by differences in the age-at-onset of polyps of the colon, in number and size of polyps, and in occurrence of desmoids. These differences may explain why some at-risk relatives wisely followed medical surveillance plans while others, who lacked symptoms, failed to do so. Others without medical guidance undertook their own independent 'treatment.' As knowledge about extracolonic lesions has increased and surgical treatment for FAPG improved from the time the first affected member of Family P received her diagnosis in 1953, the outlook for survival has also improved. Family communication and that among professionals treating families with FAPG may be improved as worldwide Polyposis Registries increase in number. The risk of postsurgical extraintestinal complications is reason enough to urge life-long medical surveillance for all at-risk relatives.

Original languageEnglish (US)
Pages (from-to)393-397
Number of pages5
JournalAmerican journal of medical genetics
Issue number4
StatePublished - Jan 1 1991


  • desmoids
  • extracolonic lesions
  • familial adenomatous polyposis
  • family study
  • follow-up examinations

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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