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2
The pancreas in familial adenomatous polyposis.家族性腺瘤性息肉病中的胰腺
JOP. 2008 Jan 8;9(1):9-18.
3
Online Mendelian Inheritance in Man 'OMIM'.《人类孟德尔遗传在线》(OMIM)。
Indian J Dermatol Venereol Leprol. 2003 Nov-Dec;69(6):423-4.
4
Multicentric peripheral ossifying fibroma.多中心性外周骨化性纤维瘤
J Oral Sci. 2006 Dec;48(4):239-43. doi: 10.2334/josnusd.48.239.
5
[Clinical management of adenomatous polyposis in patients with hereditary non-polyposis colorectal cancer and familial adenomatous polyposis].遗传性非息肉病性结直肠癌和家族性腺瘤性息肉病患者腺瘤性息肉病的临床管理
Zhonghua Yi Xue Za Zhi. 2006 Feb 28;86(8):526-9.
6
Hereditary familial polyposis and Gardner's syndrome: contribution of the odonto-stomatology examination in its diagnosis and a case description.遗传性家族性息肉病与加德纳综合征:口腔齿科学检查在其诊断中的作用及病例描述
Med Oral Patol Oral Cir Bucal. 2005 Nov-Dec;10(5):402-9.
7
Cyclooxygenase-2 expression in FAP patients carrying germ line MYH mutations.携带种系MYH突变的家族性腺瘤性息肉病(FAP)患者中环氧合酶-2的表达
Cancer Epidemiol Biomarkers Prev. 2005 Aug;14(8):2049-52. doi: 10.1158/1055-9965.EPI-05-0028.
8
Prospects in NSAID-derived chemoprevention of colorectal cancer.非甾体抗炎药在结直肠癌化学预防中的前景。
Biochem Soc Trans. 2005 Aug;33(Pt 4):667-71. doi: 10.1042/BST0330667.
9
Increased cyclooxygenase-2 expression in duodenal compared with colonic tissues in familial adenomatous polyposis and relationship to the -765G -> C COX-2 polymorphism.家族性腺瘤性息肉病中十二指肠组织相较于结肠组织环氧化酶-2表达增加及其与-765G→C环氧化酶-2基因多态性的关系
Clin Cancer Res. 2005 Jun 1;11(11):4090-6. doi: 10.1158/1078-0432.CCR-04-2379.
10
A genetic and clinical study of intestinal polyposis, a predisposing factor for carcinoma of the colon and rectum.一项关于肠道息肉病的遗传学与临床研究,肠道息肉病是结肠癌和直肠癌的一个诱发因素。
Am J Hum Genet. 1951 Jun;3(2):167-76.

加德纳综合征,外科临床中一种罕见的综合征。

Gardner's syndrome, a rare combination in surgical practice.

作者信息

Sahoo Manash Ranjan, Nayak Anil Kumar, Pattanaik Akshapada, Gowda Manoj S

机构信息

Department of General Surgery, S.C.B. Medical College & Hospital, Cuttack, Odisha, India.

出版信息

BMJ Case Rep. 2014 May 26;2014:bcr2013008760. doi: 10.1136/bcr-2013-008760.

DOI:10.1136/bcr-2013-008760
PMID:24862409
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4039798/
Abstract

A 45-year-old man presented to the emergency ward with features of intestinal obstruction of 2 days duration. On admission, there was abdominal distension and multiple sessile polyps found on digital rectal examination. In addition, a soft tissue swelling near the elbow and a bony swelling over scalp were noted. Abdominal radiography revealed gaseous distension of the small and large bowel, and ultrasound revealed diffuse, gas-filled bowel with sluggish peristalsis. The obstruction failed to resolve with conservative measures and at emergency laparotomy an irregular hard recto-sigmoid junction mass was identified. A defunctioning transverse loop colostomy was undertaken and the abdomen closed. During recovery, a colonoscopy was performed and a malignant appearing lesion was identified 15 cm proximal to the anal verge. Further per-stomal colonoscopy revealed multiple sessile polyps from the ileo-caecal valve to the descending colon. The cutaneous and abdominal findings were consistent with a rare acute presentation of Gardner's syndrome.

摘要

一名45岁男性因持续2天的肠梗阻症状就诊于急诊病房。入院时,腹部膨隆,直肠指检发现多个无蒂息肉。此外,还注意到肘部附近有软组织肿胀以及头皮上有骨性肿胀。腹部X线检查显示小肠和大肠均有气体扩张,超声检查显示肠管弥漫性充气且蠕动缓慢。保守治疗后梗阻未缓解,急诊剖腹探查时发现乙状结肠直肠交界处有一不规则硬块。遂行横结肠袢式造口术,关闭腹腔。恢复期间,进行了结肠镜检查,在距肛缘15厘米处发现一个疑似恶性病变。进一步的造口周围结肠镜检查显示,从回盲瓣到降结肠有多个无蒂息肉。皮肤和腹部表现符合加德纳综合征罕见的急性表现。