Literature DB >> 21473084

[Sporadic aniridia and Wilm's tumor--a case report and review of recommendation for diagnostic approach in WAGR's syndrome].

Beata Orawiec1, Wojciech Młynarski, Małgorzata Budzińska-Mikurenda, Mirosława Grałek, Beata Szewczyk-Zalewska, Anna Niwald.   

Abstract

The current paper presents a case of 14 months old girl with WAGR's syndrome. This syndrome is a genetic disorder characterized by the deletion at 11p13 locus which gives clinical presentation of aniridia, Wilms' tumor, genitourinary anomalies and mental retardation. Although WAGR's syndrome is a rare disorder, knowledge of its presentation is helpful in early diagnosis of nephroblastoma and may have impact on clinical outcome of the patient. Since aniridia may be the first symptom of WAGR's syndrome, it is recommended that all neonates with aniridia need to be screened for deletion of WT1 on chromosome 11p13. These with deletions should be monitored regularly for tumor development.

Entities:  

Mesh:

Year:  2010        PMID: 21473084

Source DB:  PubMed          Journal:  Klin Oczna        ISSN: 0023-2157


  1 in total

1.  Investigating the dysfunctional pathogenesis of Wilms' tumor through a multidimensional integration strategy.

Authors:  Wenbiao Chen; Jia Zhuang; Lan Gong; Yong Dai; Hongyan Diao
Journal:  Ann Transl Med       Date:  2019-04
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.