Repozitorij Medicinskog fakulteta Sveučilišta u Zagrebu

Gardner's syndrome: genetic testing and colonoscopy are indicated in adolescents and young adults with cranial osteomas: A case report

Smuđ, Dubravko and Augustin, Goran and Kekez, Tihomir and Kinda, Emil and Majerović, Mate and Jelinčić, Željko (2007) Gardner's syndrome: genetic testing and colonoscopy are indicated in adolescents and young adults with cranial osteomas: A case report. World journal of gastroenterology, 13 (28). pp. 3900-3903. ISSN 1007-9327

[img]
Preview
PDF
Download (589Kb) | Preview

    English abstract

    We present a case of a 25-year-old female with diagnosed familial adenomatous polyposis and elevated carcinoembryonic antigen with negative family history. The suspicion of Gardner's syndrome was raised because extirpation of an osteoma of the left temporo-occipital region was made 10 years ago. Restorative procto-colectomy and ileal pouch anal anastomosis was made but histology delineated adenocarcinoma of the rectum (Dukes C stage). We conclude that cranial osteomas often precede gastrointestinal manifestations of familial adenomatous polyposis or Gardner's syndrome and such patients should be evaluated with genetic testing followed by colonoscopy if results are positive to prevent the development of colorectal carcinoma. If the diagnosis is positive all family members should be evaluated for familial adenomatous polyposis.

    Item Type: Article
    MeSH: Gardner Syndrome - complications - diagnosis ; Osteoma - congenital ; Skull Neoplasms - congenital ; Adult ; Colonoscopy ; Female ; Genetic Screening ; Humans
    Divisions: Katedra za kirurgiju
    Depositing User: Lea Škorić
    Status: Published
    Creators:
    CreatorsEmail
    Smuđ, Dubravko
    Augustin, Goran
    Kekez, Tihomir
    Kinda, Emil
    Majerović, Mate
    Jelinčić, Željko
    Date: July 2007
    Date Deposited: 10 Oct 2007
    Last Modified: 23 Sep 2011 18:10
    Subjects: /
    Related URLs:
      URI: http://medlib.mef.hr/id/eprint/290

      Actions (login required)

      View Item

      Document Downloads

      More statistics for this item...