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Difference between revisions of "Familial adenomatous polyposis"
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Familial adenomatous polyposis (view source)
Revision as of 17:49, 3 September 2011
, 17:49, 3 September 2011more
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===Gardner syndrome=== | ===Gardner syndrome=== | ||
FAP with prominent extraintestinal manifestations - including:<ref name=pmid19822006>{{Cite journal | last1 = Half | first1 = E. | last2 = Bercovich | first2 = D. | last3 = Rozen | first3 = P. | title = Familial adenomatous polyposis. | journal = Orphanet J Rare Dis | volume = 4 | issue = | pages = 22 | month = | year = 2009 | doi = 10.1186/1750-1172-4-22 | PMID = 19822006 | PMC = 2772987}}</ref> | |||
*[[Osteoma]]s. | |||
*[[Desmoid tumour]]s. | |||
*Congenital hypertrophy of the retinal pigment epithelium. | |||
*Fibromas. | |||
*Epidermal inclusion cysts.<ref name=omim175100>{{OMIM|175100}}</ref> | |||
*Osteosclerotic jaw lesions.<ref name=omim175100>{{OMIM|175100}}</ref> | |||
===Turcot syndrome=== | ===Turcot syndrome=== | ||
The term is somewhat ambiguous and probably ought to be avoided: | |||
*Half ''et al.''<ref name=pmid19822006>{{Cite journal | last1 = Half | first1 = E. | last2 = Bercovich | first2 = D. | last3 = Rozen | first3 = P. | title = Familial adenomatous polyposis. | journal = Orphanet J Rare Dis | volume = 4 | issue = | pages = 22 | month = | year = 2009 | doi = 10.1186/1750-1172-4-22 | PMID = 19822006 | PMC = 2772987}}</ref> | |||
says Turcot syndrome is FAP associated with a [[medulloblastoma]]... while OMIM says Turcot syndrome is tied to [[Lynch syndrome]] and autosomal recessive.<ref name=omim175100>{{OMIM|175100}}</ref> | |||
**The discussion by Half et al. and in OMIM are informative. | |||
==Associations== | ==Associations== | ||