تقرير
An uncommon presentation of WAGR syndrome with persistent fetal vasculature.
| العنوان: | An uncommon presentation of WAGR syndrome with persistent fetal vasculature. |
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| المؤلفون: | Devaraj A; Pediatric Ophthalmology and Adult Strabismus Services, Aravind Eye Hospital, Madurai Tamil Nadu, India. Electronic address: drathira21@gmail.com., Shetty S; Pediatric Ophthalmology and Adult Strabismus Services, Aravind Eye Hospital, Madurai Tamil Nadu, India., Patnaik N; Pediatric Ophthalmology and Adult Strabismus Services, Aravind Eye Hospital, Madurai Tamil Nadu, India., Parida H; Vitreoretinal Services, Aravind Eye Hospital, Madurai Tamil Nadu, India., Pandurangan S; Pediatric Ophthalmology and Adult Strabismus Services, Aravind Eye Hospital, Madurai Tamil Nadu, India. |
| المصدر: | Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus [J AAPOS] 2023 Dec; Vol. 27 (6), pp. 357-359. Date of Electronic Publication: 2023 Sep 23. |
| نوع المنشور: | Case Reports |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9710011 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-3933 (Electronic) Linking ISSN: 10918531 NLM ISO Abbreviation: J AAPOS Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: [New York] : Elsevier Inc. Original Publication: St. Louis, MO : Mosby-Year Book, Inc., c1997- |
| مواضيع طبية MeSH: | WAGR Syndrome*/diagnosis , WAGR Syndrome*/genetics , WAGR Syndrome*/pathology , Aniridia*/diagnosis , Aniridia*/genetics , Aniridia*/pathology , Intellectual Disability*/genetics, Humans ; Chromosome Deletion ; Mutation |
| مستخلص: | Aniridia is an autosomal dominant congenital malformation associated with mutations in the PAX6 gene. It can be associated with deletion in the contiguous WT1 gene, leading to WAGR syndrome, characterized by Wilm tumor, aniridia, genitourinary anomalies, and mental retardation. Persistent fetal vasculature is a developmental malformation caused by incomplete regression of hyaloid vasculature. Most cases of persistent fetal vasculature occur sporadically; however, some inherited forms are described. We report a case of genetically confirmed WAGR associated with congenital cataract and persistent fetal vasculature. (Copyright © 2023 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.) |
| تواريخ الأحداث: | Date Created: 20230924 Date Completed: 20231218 Latest Revision: 20240410 |
| رمز التحديث: | 20240410 |
| DOI: | 10.1016/j.jaapos.2023.07.016 |
| PMID: | 37742703 |
| قاعدة البيانات: | MEDLINE |
Full Text via ClinicalKey 
Full Text Finder | تدمد: | 1528-3933 |
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| DOI: | 10.1016/j.jaapos.2023.07.016 |