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. 1982 Jun;19(3):193–203. doi: 10.1136/jmg.19.3.193

Familial polyposis coli and its extracolonic manifestations.

S B Cohen
PMCID: PMC1048865  PMID: 7108915

Abstract

A detailed clinical study of 30 families with familial polyposis coli is presented. Seven 'isolated' cases are also described. It was found that some families did not exhibit any extracolonic manifestations, but the majority of families showed various numbers of members who had these manifestations of differing types and degrees. In view of the great variability within the members of a family, polyposis coli and the Gardner syndrome are probably both produced by one pleiotropic gene. The occurrence of other neoplastic phenomena in association with polyposis coli has been considered. Many types of malignancy can occur in these patients and their families and the majority are probably fortuitous. The consistent finding of an association with medulloblastoma is such as to make this association of significance, but no reason is known for this. It is suggested that the term 'Turcot syndrome' should be used in a more restrictive manner than at present.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Baughman F. A., Jr, List C. F., Williams J. R., Muldoon J. P., Segarra J. M., Volkel J. S. The glioma-polyposis syndrome. N Engl J Med. 1969 Dec 11;281(24):1345–1346. doi: 10.1056/NEJM196912112812407. [DOI] [PubMed] [Google Scholar]
  2. Bussey H. J. Extracolonic lesions associated with polyposis coli. Proc R Soc Med. 1972 Mar;65(3):294–294. [PMC free article] [PubMed] [Google Scholar]
  3. Capps W. F., Jr, Lewis M. I., Gazzaniga D. A. Carcinoma of the colon, ampulla of Vater and urinary bladder associated with familial multiple polyposis: a case report. Dis Colon Rectum. 1968 Jul-Aug;11(4):298–305. doi: 10.1007/BF02617160. [DOI] [PubMed] [Google Scholar]
  4. GARDNER E. J. Follow-up study of a family group exhibiting dominant inheritance for a syndrome including intestinal polyps, osteomas, fibromas and epidermal cysts. Am J Hum Genet. 1962 Dec;14:376–390. [PMC free article] [PubMed] [Google Scholar]
  5. GARDNER E. J., RICHARDS R. C. Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis. Am J Hum Genet. 1953 Jun;5(2):139–147. [PMC free article] [PubMed] [Google Scholar]
  6. Hoffmann D. C., Goligher J. C. Polyposis of the stomach and small intestine in association with familia polyposis coli. Br J Surg. 1971 Feb;58(2):126–128. doi: 10.1002/bjs.1800580212. [DOI] [PubMed] [Google Scholar]
  7. Itoh H., Ohsato K., Yao T., Iida M., Watanabe H. Turcot's syndrome and its mode of inheritance. Gut. 1979 May;20(5):414–419. doi: 10.1136/gut.20.5.414. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Leppard B. J. Epidermoid cysts and polyposis coli. Proc R Soc Med. 1974 Oct;67(10):1036–1037. [PMC free article] [PubMed] [Google Scholar]
  9. McAdam W. A., Goligher J. C. The occurrence of desmoids in patients with familial polyposis coli. Br J Surg. 1970 Aug;57(8):618–631. doi: 10.1002/bjs.1800570816. [DOI] [PubMed] [Google Scholar]
  10. Miller R. H., Sweet R. H. MULTIPLE POLYPOSIS OF THE COLON: A FAMILIAL DISEASE. Ann Surg. 1937 Apr;105(4):511–515. doi: 10.1097/00000658-193704000-00004. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Morson B. President's address. The polyp-cancer sequence in the large bowel. Proc R Soc Med. 1974 Jun;67(6 Pt 1):451–457. [PMC free article] [PubMed] [Google Scholar]
  12. OLDFIELD M. C. The association of familial polyposis of the colon with multiple sebaceous cysts. Br J Surg. 1954 Mar;41(169):534–541. doi: 10.1002/bjs.18004116917. [DOI] [PubMed] [Google Scholar]
  13. TURCOT J., DESPRES J. P., ST PIERRE F. Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases. Dis Colon Rectum. 1959 Sep-Oct;2:465–468. doi: 10.1007/BF02616938. [DOI] [PubMed] [Google Scholar]
  14. Terao H., Sato S., Kim S. Gardner's syndrome involving the skull, dura, and brain. Case report. J Neurosurg. 1976 May;44(5):638–641. doi: 10.3171/jns.1976.44.5.0638. [DOI] [PubMed] [Google Scholar]
  15. Utsunomiya J., Maki T., Iwama T., Matsunaga Y., Ichikawa T. Gastric lesion of familial polyposis coli. Cancer. 1974 Sep;34(3):745–754. doi: 10.1002/1097-0142(197409)34:3<745::aid-cncr2820340333>3.0.co;2-y. [DOI] [PubMed] [Google Scholar]
  16. YAFFEE H. S. GASTRIC POLYPOSIS AND SOFT TISSUE TUMORS. A VARIANT OF GARDNER'S SYNDROME. Arch Dermatol. 1964 Jun;89:806–808. doi: 10.1001/archderm.1964.01590300034011. [DOI] [PubMed] [Google Scholar]

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