PMID- 20405644
OWN - NLM
STAT- MEDLINE
DCOM- 20100518
LR  - 20100421
IS  - 0353-9466 (Print)
IS  - 0353-9466 (Linking)
VI  - 48
IP  - 4
DP  - 2009 Sep
TI  - WAGR syndrome--a case report.
PG  - 455-9
AB  - Congenital anomaly syndrome consisting of Wilms tumor, aniridia, genitourinary 
      malformations and mental retardation (WAGR) is a rare, sporadic genetic disorder 
      characterized by a de novo deletion in the distal band of 11p13 chromosome. The 
      syndrome is usually recognized by sporadic aniridia present at birth, often 
      followed by the development of Wilms tumor in early childhood, but possible at 
      any age. Genetic testing using fluorescence in situ hybridization (FISH) is the 
      method of choice to detect specific deletions. The multidisciplinary approach in 
      medical treatment not only of the tumor, but of a large variety of clinical 
      features and possible complications is highly demanding and challenging. We 
      report on a boy born with aniridia, cryptorchidism and facial dysmorphism 
      recognized as WAGR syndrome in neonatal period, subsequently confirmed by genetic 
      testing. Wilms tumor developed at the age of one year. Surgical treatment and 
      chemotherapy resulted in complete remission for almost six years now. However, an 
      increased risk of late post-treatment complications and development of de novo 
      tumor in the contralateral kidney is a permanent threat. Therefore, ongoing 
      oncologic follow up along with ophthalmologic and neurologic treatment and 
      psychological support are a lifelong necessity.
FAU - Starcevic, Mirta
AU  - Starcevic M
AD  - University Department of Pediatrics, Sestre milosrdnice University Hospital, 
      Zagreb, Croatia. mirta_ps@yahoo.com
FAU - Mataija, Marina
AU  - Mataija M
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Croatia
TA  - Acta Clin Croat
JT  - Acta clinica Croatica
JID - 9425483
SB  - IM
MH  - Child, Preschool
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - WAGR Syndrome/*diagnosis
EDAT- 2010/04/22 06:00
MHDA- 2010/05/19 06:00
CRDT- 2010/04/22 06:00
PHST- 2010/04/22 06:00 [entrez]
PHST- 2010/04/22 06:00 [pubmed]
PHST- 2010/05/19 06:00 [medline]
PST - ppublish
SO  - Acta Clin Croat. 2009 Sep;48(4):455-9.