Linked Life Data

20405644

Source:http://linkedlifedata.com/resource/pubmed/id/20405644

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2010-4-21
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0353-9466
pubmed:author
pubmed:issnType
Print
pubmed:volume
48
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
455-9
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
WAGR syndrome--a case report.
pubmed:affiliation
University Department of Pediatrics, Sestre milosrdnice University Hospital, Zagreb, Croatia. mirta_ps@yahoo.com
pubmed:publicationType
Journal Article, Case Reports