Literature DB >> 21769769

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

Ibrahim Halil Turkbeyler1, Yavuz Pehlivan, Gazi Comez, Davut Pehlivan, Alper Sevinc, Mehmet Emin Kalender, Metin Karakok, Celalettin Camci.   

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.

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Year:  2011        PMID: 21769769

Source DB:  PubMed          Journal:  Tokai J Exp Clin Med        ISSN: 0385-0005


  2 in total

Review 1.  Immunogenetics of gastrointestinal cancers: A systematic review and retrospective survey of inborn errors of immunity in humans.

Authors:  Beishi Zheng; Michael G Artin; Howard Chung; Bing Chen; Siming Sun; Benjamin L May; Chin Hur; Peter H R Green; Timothy C Wang; Jiheum Park; Xiao-Fei Kong
Journal:  J Gastroenterol Hepatol       Date:  2022-04-13       Impact factor: 4.369

2.  Identification of the DNA repair defects in a case of Dubowitz syndrome.

Authors:  Jingyin Yue; Huimei Lu; Shijie Lan; Jingmei Liu; Mark N Stein; Bruce G Haffty; Zhiyuan Shen
Journal:  PLoS One       Date:  2013-01-25       Impact factor: 3.240

  2 in total

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