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 Table of Contents  
Year : 2015  |  Volume : 27  |  Issue : 4  |  Page : 625-628

Gardner's syndrome: A case report and review of literature

1 Department of Oral Medicine and Radiology, Guru Nanak Dev Dental College and Research Institute, Sunam, Punjab, India
2 Private Practice, Faridabad, Haryana, India

Date of Submission16-Aug-2014
Date of Acceptance21-Jun-2016
Date of Web Publication19-Aug-2016

Correspondence Address:
Dr. Neetu Singla
Department of Oral Medicine and Radiology, Guru Nanak Dev Dental College and Research Institute, Bathinda-Patiala Road, Sunam - 148 028, Punjab
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0972-1363.188779

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Gardner syndrome is a rare, autosomal dominant syndrome that follows a positive course with diagnosis and treatment by medical and dental specialists. General dental physicians can diagnose the syndrome through radiological images taken in addition to dental and skeletal findings. In this article a 45-year-old male patient with previously undiagnosed Gardner's syndrome who presented for removal of painful mobile tooth is reported to illustrate the importance of detection and proper referral.

Keywords: Gardner′s syndrome, intestinal polyps, osteoma

How to cite this article:
Singla N, Sunil MK, Trivedi A, Goyal S. Gardner's syndrome: A case report and review of literature. J Indian Acad Oral Med Radiol 2015;27:625-8

How to cite this URL:
Singla N, Sunil MK, Trivedi A, Goyal S. Gardner's syndrome: A case report and review of literature. J Indian Acad Oral Med Radiol [serial online] 2015 [cited 2023 Feb 8];27:625-8. Available from: http://www.jiaomr.in/text.asp?2015/27/4/625/188779

   Introduction Top

Gardner's syndrome (GS) is an autosomal dominant disorder with a prevalence 1:8000 localized to a small region on long arm of chromosome 5 (5q21-22). [1] Devic and Bussy in 1912 described a triad of intestinal polyps, soft tissue tumors, and multiple osteomas of skull. [2] In early 1950s, the syndrome was defined by Gardner, who later discovered the dental and skeletal abnormalities. This article presents a case of GS and briefly reviews its oral and maxillofacial considerations. [2]

   Case Report Top

A 45-year-old male patient reported with complaint of sharp, continuous and non-radiating pain in the right maxillary jaw region since 1 month. History of occasional gastric pain after intake of food was also reported, but patient did not undergo any treatment for it. On general physical examination, two well-defined soft and fluctuant swellings (3 × 5 cm approximately) were seen over the left arm and right occipital region which were freely mobile and non-tender History revealed they were present since childhood and the patient had not seeked any treatment for the same [Figure 1] and [Figure 2]. Small bony hard, non-tender nodules (1 × 2 cm approximately) were seen on the vertex [Figure 3]. Extraoral examination revealed gross facial asymmetry with four well-defined bony hard swellings of varying sizes (2-5 cm each) over forehead, left malar area, beneath right ear lobe and angle of mandible on right side [Figure 2] and [Figure 4]. Upon further enquiry, patient recalled that his father and brother also had similar types of nodular swelling. Patient had poor oral hygiene along with multiple clinically missing teeth.
Figure 1: Soft and fluctuant swelling over left arm

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Figure 2: Extraoral photograph showing soft and fluctuant swelling over right occipital region and bony hard swelling below right ear lobe and at the angle of mandible

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Figure 3: Bony hard swelling over the vertex

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Figure 4: Extraoral photograph showing bony hard swellings over the forehead and left malar region

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Intraoral periapical radiograph with respect to 24, 25 revealed vertical bone loss [Figure 5] and he was advised extraction of the same. Taking into consideration the presence of other positive findings patient was suspected of having Gardener's syndrome and further investigations were carried out for confirmation. Panoramic radiographic view showed two well-defined homogeneous radiopacities at right angle and ramus region of mandible. Also impacted teeth with respect to 15, 23, 34, 45 were seen along with diffuse osteosclerosis of both jaws [Figure 6]. PA skull view revealed well-defined radio-opacity in the right frontal sinus region suggestive of osteoma [Figure 7]. On further colonoscopic biopsy evaluation by gastroenterologist, he was diagnosed with adenocarcinoma of the colon. He underwent surgery, but unfortunately he succumbed to complications of the surgical procedure.
Figure 5: Intraoral periapical radiograph showing vertical bone loss

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Figure 6: Panoramic view showing multiple impacted teeth along with two well defined radio-opacities at the angle and ramus. Also seen is the diffuse osteosclerosis of jaws

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Figure 7: PA skull view showing osteoma in frontal sinus

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   Discussion Top

Early detection of GS is extremely important because it may lead to severe complications like colorectal adenocarcinoma. [3] The maxillofacial features of the syndrome can appear many years before the intestinal polyposis, so dentists should be familiar with the significance of GS as a pre-cancerous condition. As such, early detection of multiple jaw osteomas and/or multiple epidermoid cysts (particularly on scalp) may lead to appropriate further investigations and treatment which might be life saving. As the syndrome is genetically inherited, timely diagnosis also has implications for other family members. [4] GS is a multisystemic disease consisting of extensive adenomatous polyps of colon, epidermoid cysts, osteomatosis of skull and mandible along with cutaneous and subcutaneous fibromas. [5] In some cases this entity is complicated with other malignancies to include periampullary neoplasms and intra-abdominal desmoid tumor. [6]

Polyps (12% of patients) formation starts at puberty but usually are diagnosed in the third decade, while malignant transformation approaches 100% by fourth decade of life. The presenting symptoms are anemia, lower gastrointestinal bleeding, cramping abdominal pain, diarrhea, bowel obstruction and mucous discharge. [7] The present case had abdominal discomfort and pain. [7] Desmoid tumors (10%) are considered locally invasive, non-malignant, and non-encapsulated and may occur in skin of anterior abdominal wall or intra-abdominally. [8] The commonest skin manifestations are epidermoid or sebaceous cysts (66%) and are found on face, scalp and extremities. They are usually asymptomatic although mild pruritus or signs of inflammation may be evident. Similar cystic swellings were reported in this case. [8] Dental abnormalities are present in around 30% cases and include supernumerary teeth, compound odontomas, hypodontia, abnormal tooth morphology and impacted or unerupted teeth with difficulties in extraction due to ankylosis. The present case had multiple impacted teeth.

Skeletal abnormalities appear in approximately 90% of patients, and osteoma (68-82%) is considered to be most common, the frequent sites being the outer cortex of skull, paranasal sinuses and mandible. [9] In mandible, two types of osteomas occur: central or lobulated. Centrally located osteomas occur characteristically near roots of the teeth, and lobulated types arise from the cortex and most commonly observed at angle. Osteomas are predominantly asymptomatic, but can cause facial asymmetry as a result of expansion. In addition to clinical palpation, panoramic radiography is an effective means of their detection. While a solitary osteoma of jaw is a common incidental finding in panoramic radiography, if more than three such lesions are found, it is highly suggestive of GS. [1] In our patient, radiopacities at angle and ramus of mandible were observed, and several impacted teeth in all segments of jaws were evident. In a normal population, the incidence of osteosclerosis in the jaws is low, whereas in some studies these are detected in more than 70% of cases of familial adenomatosis coli or Gardener's syndrome. In this patient, osteosclerosis was evident in the body of mandible.

This case is reported to illustrate the dentist's role in diagnosis of GS. It is proposed that radiologic study of jaws may serve as a valuable tool for early detection of carriers of this syndrome. The remarkable feature of this patient was the unusual presentation and early manifestations of head and neck lesions. Unlike most patients of GS who present with gastrointestinal symptoms such as bloody diarrhea and pain in abdomen, our patient presented with abdominal pain only. Additionally, positive family history in this case, points toward the inherited nature of the syndrome. Upon diagnosis of Gardner's syndrome, patient may require multidisciplinary management measures including surveillance and careful follow-up, and colonoscopy of gastrointestinal area to make sure that cancer does not develop. Generally, cutaneous findings do not require treatment except for cosmetic reasons or biopsies to rule out malignancies. Dental managements may include removal of impacted teeth, cysts of jaw or face as well as resection of osteomas for functional or cosmetic reasons.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

   References Top

Payne M, Anderson JA, Cook J. Gardner′s syndrome-A case report. Br Dent J 2002;193:383-4.  Back to cited text no. 1
Madani M, Madani F. Gardner′s syndrome presenting with dental complaints. Arch Iran Med 2007;10:535-9.  Back to cited text no. 2
Fonseca LC, Kodama NK, Nunes FCF, Maciel PH, Fonseca FA, Roitberg M, et al. Radiographic assessment of Gardner′s syndrome. Dentomaxillofacial Radiol 2007;36:121-4.  Back to cited text no. 3
Basarana G, Erkanb M. One of the rarest syndromes in dentistry: Gardner syndrome. Eur J Dent 2008;2:208-12.  Back to cited text no. 4
Castelino RL, Subhas Babu G, Shetty SR, Kumuda Arvind Rao HT. Multiple craniofacial osteomas: An isolated case. Arch Orofac Sci 2011;6:32-6.  Back to cited text no. 5
Hatzimarkou A, Filippou D, Papadopoulos V, Filippou G, Rizos S, Skandalakis P. Desmoid tumor in Gardner′s syndrome presented as acute abdomen. World J of Surg Oncol 2006;4:18.  Back to cited text no. 6
Fotiadis C, Tsekouras DK, Antonakis P, Sfiniadakis J, Genetzakis M, Zografos GS. Gardner′s syndrome: A case report and review of the literature. World J Gastroenterol 2005;11:5408-11.  Back to cited text no. 7
Cankya AB, Erdem MA, Isler SC, Cifter M, Olgac V, Kasapoglu C, et al. Oral and maxillofacial considerations in Gardner′s syndrome. Int J Med Sci 2012;9:137-41.  Back to cited text no. 8
Neville BW, Damm DD, Allan CM, Bouquot JE. Oral and Maxillofacial Pathology. 2 nd ed. Philadelphia: WB Saunders; 1995. p. 567-8.  Back to cited text no. 9


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]

This article has been cited by
J Clarke, S Islam, S Medford, S Juman, P Harnarayan, V Naraynsingh
International Journal of Research -GRANTHAALAYAH. 2021; 9(8): 349
[Pubmed] | [DOI]


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