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加德纳综合征的结肠外表现：一例报告。

Extracolonic manifestations of Gardner syndrome: A case report.

作者信息

Blackwell McKenzie C, Thakkar Bhushan, Flores Andres, Zhang Wenjian

机构信息

Department of Surgical Sciences, East Carolina University School of Dental Medicine, Greenville, NC, USA.

Department of General Dentistry, East Carolina University School of Dental Medicine, Greenville, NC, USA.

出版信息

Imaging Sci Dent. 2023 Jun;53(2):169-174. doi: 10.5624/isd.20230006. Epub 2023 Mar 24.

DOI:10.5624/isd.20230006
PMID:37405201
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10315231/
Abstract

Gardner syndrome has head and neck manifestations that may be recognized during dental visits. Features such as multiple gnathic osteomas, impacted supernumerary teeth, and multiple foci of idiopathic osteosclerosis can be easily identified on dental radiographs, prompting the clinician to refer the patient for further investigation. A dental examination and routine radiographs play a vital role in revealing the extracolonic presentation of Gardner syndrome, which facilitates timely screening and detection of colorectal cancer and other malignancies associated with this condition. This report discusses the case of a 50-year-old Caucasian man who presented with a hard swelling of the left angle of the mandible and was diagnosed with Gardner syndrome based on abnormal findings from an oral examination, dental imaging, and medical and family history.

摘要

加德纳综合征有一些头颈部表现，在牙科就诊时可能会被发现。诸如多发性颌骨骨瘤、阻生多生牙以及特发性骨硬化的多个病灶等特征，在牙科X光片上很容易识别，这促使临床医生将患者转诊做进一步检查。牙科检查和常规X光片在揭示加德纳综合征的结肠外表现方面起着至关重要的作用，这有助于及时筛查和发现与该病症相关的结直肠癌及其他恶性肿瘤。本报告讨论了一名50岁白人男性的病例，该患者下颌左角出现硬性肿胀，根据口腔检查、牙科影像学以及病史和家族史的异常发现，被诊断为加德纳综合征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/308e/10315231/9945f061b861/isd-53-169-g008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/308e/10315231/b274768815da/isd-53-169-g001.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/308e/10315231/cd121ab4bf43/isd-53-169-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/308e/10315231/41e982db17c7/isd-53-169-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/308e/10315231/31782dc43ec3/isd-53-169-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/308e/10315231/f9004ef7f675/isd-53-169-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/308e/10315231/c504a8200396/isd-53-169-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/308e/10315231/9945f061b861/isd-53-169-g008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/308e/10315231/b274768815da/isd-53-169-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/308e/10315231/dddb1bc69a68/isd-53-169-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/308e/10315231/cd121ab4bf43/isd-53-169-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/308e/10315231/41e982db17c7/isd-53-169-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/308e/10315231/31782dc43ec3/isd-53-169-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/308e/10315231/f9004ef7f675/isd-53-169-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/308e/10315231/c504a8200396/isd-53-169-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/308e/10315231/9945f061b861/isd-53-169-g008.jpg

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Acta Med Acad. 2019 Aug;48(2):217-224. doi: 10.5644/ama2006-124.260.
2
Gardner syndrome with maxillofacial manifestation: A case report.伴有颌面表现的加德纳综合征：一例报告。
Spec Care Dentist. 2019 Jan;39(1):65-71. doi: 10.1111/scd.12339. Epub 2018 Nov 12.
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Hepatoblastoma in patients with molecularly proven familial adenomatous polyposis: Clinical characteristics and rationale for surveillance screening.
家族性腺瘤性息肉病患者中的肝母细胞瘤：临床特征和监测筛查的理由。
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Germline APC mutations in hepatoblastoma.胚系 APC 突变与肝母细胞瘤。
Pediatr Blood Cancer. 2018 Apr;65(4). doi: 10.1002/pbc.26892. Epub 2017 Dec 18.
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Pathology and genetics of hereditary colorectal cancer.遗传性结直肠癌的病理学和遗传学
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A novel mutation of adenomatous polyposis coli (APC) gene results in the formation of supernumerary teeth.一种腺瘤性结肠息肉病（APC）基因的新型突变导致了额外牙齿的形成。
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Genetic/Familial High-Risk Assessment: Colorectal Version 1.2016, NCCN Clinical Practice Guidelines in Oncology.遗传/家族性高风险评估：结直肠癌 1.2016 版，NCCN 肿瘤学临床实践指南。
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