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一名患有杜波维茨综合征患者的食管癌与IgA缺乏症:病例报告

Esophagus cancer and IgA deficiency in a patient with Dubowitz syndrome: a case report.

作者信息

Turkbeyler Ibrahim Halil, Pehlivan Yavuz, Comez Gazi, Pehlivan Davut, Sevinc Alper, Kalender Mehmet Emin, Karakok Metin, Camci Celalettin

机构信息

Gaziantep University Faculty of Medicine, Department of Internal medicine, Gaziantep, Turkey .

出版信息

Tokai J Exp Clin Med. 2011 Jul 20;36(2):29-30.

PMID:21769769
Abstract

Dubowitz syndrome was first described in 1965 by the English physician Dr. Victor Dubowitz. This genetic disorder causes growth retardation both before and after birth. It is primarily diagnosed through the distinctive facial features of affected individuals, including a small triangular-shaped face with a high forehead and wide-set, slitted eyes. The main method of diagnosis is through identification of facial phenotype. Esophageal mass biopsy revealed squamous cell carcinoma type. Both malignancy and IgA deficiency have been reported literature in patients with Dubowitz syndrome. However, Esophagus cancer has not been reported among the malignant tumors. Herein, we reported a patient with Dubowitz syndrome, IgA deficiency and Esophagus cancer.

摘要

杜波维茨综合征于1965年由英国医生维克多·杜波维茨博士首次描述。这种遗传性疾病会导致出生前后的生长发育迟缓。主要通过受影响个体独特的面部特征进行诊断,包括小三角形脸、高额和眼距宽且呈裂缝状的眼睛。主要诊断方法是通过识别面部表型。食管肿物活检显示为鳞状细胞癌类型。文献报道杜波维茨综合征患者存在恶性肿瘤和IgA缺乏。然而,食管癌在恶性肿瘤中尚未见报道。在此,我们报告了1例患有杜波维茨综合征、IgA缺乏和食管癌的患者。

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Esophagus cancer and IgA deficiency in a patient with Dubowitz syndrome: a case report.一名患有杜波维茨综合征患者的食管癌与IgA缺乏症:病例报告
Tokai J Exp Clin Med. 2011 Jul 20;36(2):29-30.
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引用本文的文献

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Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis.先天性免疫缺陷相关癌症的发病趋势:系统评价和荟萃分析。
J Clin Immunol. 2024 Oct 28;45(1):34. doi: 10.1007/s10875-024-01810-w.
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Immunogenetics of gastrointestinal cancers: A systematic review and retrospective survey of inborn errors of immunity in humans.
胃肠道癌症的免疫遗传学:人类先天性免疫缺陷相关的系统性综述和回顾性调查。
J Gastroenterol Hepatol. 2022 Jun;37(6):973-982. doi: 10.1111/jgh.15848. Epub 2022 Apr 13.
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Identification of the DNA repair defects in a case of Dubowitz syndrome.杜博维茨综合征病例中的 DNA 修复缺陷鉴定。
PLoS One. 2013;8(1):e54389. doi: 10.1371/journal.pone.0054389. Epub 2013 Jan 25.