The head and neck features of Gardner’s Syndrome: A case report and review of the literature

Gardner’s Syndrome represents an autosomal dominant variant of Familial Adenomatous Polyposis in which affected individuals have a 100% risk of developing colorectal carcinoma. The extra-intestinal manifestations in the head and neck region allow for the early recognition and diagnosis of this rare syndrome. The defining triad of features includes intestinal polyposis, dento-osseous anomalies and soft tissue lesions. A 20-year-old female patient presented with a main complaint of swelling involving the left side of her nose, at which time a panoramic radiograph was obtained.Radiographic findings showed multiple osteomas, odontomas, missing teeth as well as unerupted and impacted teeth, the features of which are highly suggestive of Gardner’s Syndrome. Early recognition of the extra-intestinal features of Gardner’s Syndrome warrants patient referral for further investigation including colonoscopy and genetic testing

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Publication Details

Journal
South African Dental Journal
Published
2024-10-18
DOI
https://doi.org/10.17159/sadj.79i06.18335
Primary Topic
Genetic factors in colorectal cancer
Type
article
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article

The head and neck features of Gardner’s Syndrome: A case report and review of the literature

B.K. Bunn, Anne Black, P Gwengu, PD Motloba
South African Dental Journal
Genetic factors in colorectal cancer
article

The head and neck features of Gardner’s Syndrome: A case report and review of the literature

B.K. Bunn, Anne Black, P Gwengu, PD Motloba
article en

Abstract

Gardner’s Syndrome represents an autosomal dominant variant of Familial Adenomatous Polyposis in which affected individuals have a 100% risk of developing colorectal carcinoma. The extra-intestinal manifestations in the head and neck region allow for the early recognition and diagnosis of this rare syndrome. The defining triad of features includes intestinal polyposis, dento-osseous anomalies and soft tissue lesions. A 20-year-old female patient presented with a main complaint of swelling involving the left side of her nose, at which time a panoramic radiograph was obtained.Radiographic findings showed multiple osteomas, odontomas, missing teeth as well as unerupted and impacted teeth, the features of which are highly suggestive of Gardner’s Syndrome. Early recognition of the extra-intestinal features of Gardner’s Syndrome warrants patient referral for further investigation including colonoscopy and genetic testing

South African Dental JournalVol. 79(07)
Sefako Makgatho Health Sciences University (ZA)
Openalex Percentile: Top 59%
Genetic factors in colorectal cancer
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