دورية أكاديمية
أعرض في EDS

Bilateral Peters' anomaly, aniridia and Wilms tumour (WAGR syndrome) in monozygotic twins.

التفاصيل البيبلوغرافية
العنوان: Bilateral Peters' anomaly, aniridia and Wilms tumour (WAGR syndrome) in monozygotic twins.
المؤلفون: Cronemberger S; Hospital São Geraldo, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Albuquerque ALB; Department of Surgery, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Silva ACSE; Department of Pediatrics, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Zanini JLSS; Department of Anatomy and Imaging, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., da Silva AHG; Hospital São Geraldo, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Barbosa LF; Hospital São Geraldo, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., da Cunha Rubião F; Hospital São Geraldo, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., de Lima FL; Hospital São Geraldo, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Casimiro RF; Hospital São Geraldo, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Martins MP; Hospital São Geraldo, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Diniz-Filho A; Hospital São Geraldo, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Bastos-Rodrigues L; Department of Nutrition, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Friedman E; The Preventive Personalized Medicine Center, Assuta Medical Center and the Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel., De Marco L; Department of Surgery, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
المصدر: Acta paediatrica (Oslo, Norway : 1992) [Acta Paediatr] 2024 Jun; Vol. 113 (6), pp. 1420-1425. Date of Electronic Publication: 2024 Feb 16.
نوع المنشور: Journal Article; Case Reports; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: Norway NLM ID: 9205968 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1651-2227 (Electronic) Linking ISSN: 08035253 NLM ISO Abbreviation: Acta Paediatr Subsets: MEDLINE
أسماء مطبوعة: Publication: 2007- : Oslo : Wiley-Blackwell
Original Publication: Oslo : Scandinavian University Press, c1992-
مواضيع طبية MeSH: Twins, Monozygotic*/genetics , WAGR Syndrome*/genetics , Aniridia*/genetics , Aniridia*/complications , Wilms Tumor*/genetics , Wilms Tumor*/complications , Corneal Opacity*/genetics, Humans ; Female ; Infant ; Anterior Eye Segment/abnormalities ; Anterior Eye Segment/diagnostic imaging ; Eye Abnormalities/genetics ; Eye Abnormalities/diagnostic imaging ; Eye Abnormalities/complications ; Diseases in Twins/genetics ; Kidney Neoplasms/genetics ; Kidney Neoplasms/diagnostic imaging ; Kidney Neoplasms/complications
مستخلص: Aim: This study reports the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins subsequently diagnosed with Wilms tumour (WAGR syndrome).
Methods: Two monozygotic female twins were referred at age 2 months with bilateral corneal opacity. A diagnosis of Peters' anomaly associated to aniridia was made in both eyes of both twins. Physical examination and ultrasonography were carried out at 12 months of age to explore the possibility of WAGR-related anomalies, specifically Wilms tumour. DNA were isolated and subjected to whole exome sequencing.
Results: Peters' anomaly associated to aniridia in both eyes as well as bilateral Wilms tumour in both children were diagnosed. Exome analyses showed a large heterozygous deletion encompassing 6 648 473 bp in chromosome 11p13, using Integrative Genomics Viewer and AnnotSV software.
Conclusion: WAGR syndrome is a rare contiguous gene deletion syndrome with a greater risk of developing Wilms tumour associated with Peters' anomaly and congenital aniridia. However, co-occurrence of both anomalies was rarely reported in twins, and never in both eyes of monozygotic twins. Here, we report the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins with WAGR syndrome.
(© 2024 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.)
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معلومات مُعتمدة: CDS-RED-00019-16 Fundação de Amparo à Pesquisa do Estado de Minas Gerais; 405053/2013-4 Conselho Nacional de Desenvolvimento Científico e Tecnológico
فهرسة مساهمة: Keywords: Peters' anomaly; WAGR syndrome; Wilms' tumour; aniridia; monozygotic twins
SCR Disease Name: Peters anomaly
تواريخ الأحداث: Date Created: 20240216 Date Completed: 20240509 Latest Revision: 20240513
رمز التحديث: 20240514
DOI: 10.1111/apa.17160
PMID: 38363039
قاعدة البيانات: MEDLINE
الوصف
تدمد:1651-2227
DOI:10.1111/apa.17160