[Association between WAGR syndrome and diaphragmatic hernia].

Abstract

Anomalies in WT-1 (Wilms' tumor gene), mapped to 11p13, cause Denys-Drash, Frasier and WAGR syndromes. WAGR syndrome is characterized by Wilms' tumor (W), aniridia (A), genitourinary anomalies (G) and mental retardation (R). In the early human fetus, WT-1 is expressed in the pleural and abdominal mesothelium, and consequently this gene may play a role in diaphragm development. The first report of an association between WAGR syndrome and congenital diaphragmatic hernia has recently been published. We present another infant with aniridia, left cryptorchidism with testicular dysgenesis, right-sided posterolateral diaphragmatic hernia and moderate psychomotor retardation, in whom genetic study showed a deletion of 11p13 and PAX-6, confirming the diagnosis of WAGR syndrome.

• Authors: E Martín Campagne, J Guerrero Fernández, R Gracia Bouthelier, J A Tovar Larrucea
• Journal: Anales de pediatria (Barcelona, Spain : 2003) (An Pediatr (Barc)) Vol. 65 Issue 6 Pg. 616-8 (Dec 2006) ISSN: 1695-4033 [Print] Spain
• Vernacular Title: Asociación entre síndrome de WAGR y hernia diafragmática.
• PMID: 17194330 (Publication Type: Case Reports, English Abstract, Journal Article)

Topics

• Hernia, Diaphragmatic (complications)
• Humans
• Infant, Newborn
• Male
• WAGR Syndrome (complications)