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A Chromosomal Microarray Detects Microdeletion at Chromosome Locus 11p14.3-p12 Leading to Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation (WAGR) Syndrome.
Cureus
October 2024
Genetics, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, IND.
Article Synopsis
- WAGR syndrome includes Wilms tumor risk, absence of irises, genital/urinary abnormalities, and growth delays; it's linked to deletions on chromosome 11.
- Key symptoms can be undescended testes or nystagmus, which may alert doctors to aniridia.
- Genetic diagnosis methods include chromosomal microarray and MLPA, with the syndrome typically inherited in an autosomal dominant fashion but often arising from new mutations.
Successful Management of Velopharyngeal Insufficiency in WAGR syndrome with Deletion of Chromosome 11p14.3.
J Craniofac Surg
July 2024
Department of Plastic and Reconstructive Surgery, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Korea.
Article Synopsis
- Deletions in the 11p region can cause serious conditions like WAGR syndrome, which includes complications like Wilms tumor and mental challenges.
- Velopharyngeal insufficiency is less understood, and there's no established treatment guideline for it yet.
- In a reported case, a Korean patient with a 493kb deletion in the 11p14.3 region was effectively treated with a posterior pharyngeal flap, suggesting this treatment is advisable for WAGR syndrome patients with velopharyngeal insufficiency.
Bilateral Peters' anomaly, aniridia and Wilms tumour (WAGR syndrome) in monozygotic twins.
Acta Paediatr
June 2024
Department of Surgery, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
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.
An uncommon presentation of WAGR syndrome with persistent fetal vasculature.
J AAPOS
December 2023
Pediatric Ophthalmology and Adult Strabismus Services, Aravind Eye Hospital, Madurai Tamil Nadu, India.
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.
View Article and Find Full Text PDFTransconjunctival XEN45 implantation for secondary open-angle glaucoma management in a pediatric patient with WAGR syndrome.
Am J Ophthalmol Case Rep
December 2023
Department of Ophthalmology, University of Saskatchewan, Saskatoon, SK, Canada.
Purpose: To report a case of XEN45 gel stent implantation in a pediatric patient with WAGR syndrome as a successful surgical intervention in the management of multifactorial secondary open-angle glaucoma.
Observations: A 6-year-old female with a history of WAGR syndrome, bilateral congenital aniridia, pseudophakia OD and glaucoma OD, was referred for a XEN45 gel stent OD. IOP was persistently elevated at 24 mm Hg despite two glaucoma medications.
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