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A patient presents with long face, poorly formed ears, upward slanting palpebral fissures, ptosis and a beaked nose. You suspect WAGR syndrome.
WAGR syndrome consists of what 4 abnormalities?
What is Wilms tumor, Aniridia, Genitourinary malformation, mental Retardation
short arm of chromosome 11 (11p13)
wilms tumor in 50% of cases most often by 3yo
GU abnormalities normally hypospadias and cryptorchidism
ALSO INCREASED RISK GONADOBLASTOMA
- associated with PAX 6 and WILMS tumor 1 genes