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).
Association between WAGR syndrome and diaphragmatic hernia
 
  Key words
 
 
  
   WAGR syndrome
  
 
 
  
   Diaphragmatic hernia
  
 
 
  
   Chromosome 11p13
  
 
 
  
   WT-1 gene
  
 
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 <dis>mental retardation</dis> (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 <dis>moderate psychomotor retardation</dis>, in whom genetic study showed a deletion of 11p13 and PAX-6, confirming the diagnosis of WAGR syndrome.
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.
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 <dis>mental retardation</dis> (R).
mental retardation
DISABILITY