title: [Sporadic aniridia and Wilm's tumor--a case report and review of recommendation for diagnostic approach in WAGR's syndrome].
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.
authors.affiliation: Z Kliniki Okulistyki Dzieciecej II Katedry Pediatrii Zabiegowej Uniwersytetu Medycznego w Łodzi. borawiec@interia.pl
authors.forename: Beata
authors.initials: B
authors.lastname: Orawiec
authors.forename: Wojciech
authors.initials: W
authors.lastname: Młynarski
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Budzińska-Mikurenda
authors.forename: Mirosława
authors.initials: M
authors.lastname: Grałek
authors.forename: Beata
authors.initials: B
authors.lastname: Szewczyk-Zalewska
authors.forename: Anna
authors.initials: A
authors.lastname: Niwald
mesh_terms: D005260:Female; D006801:Humans; D007223:Infant; D016896:Treatment Outcome; D017624:WAGR Syndrome / Q000175:diagnosis* / Q000628:therapy*