A rare case of WAGR syndrome with Peter anomaly
Rohit S. Adyanthaya, Michael X. Repka
Abstract
We report a case of the WAGR syndrome associated with the Peter anomaly. A 6-day-old baby boy was found to have bilateral corneal opacities, 360 degrees of iris hypoplasia and cataracts. Physical examination revealed bilateral undescended testicles. Family history was unremarkable and genetic testing revealed a deletion 11p11.2-13 indicating WAGR syndrome. A Wilms tumor developed and was removed at age 2 years. There was moderate developmental delay. The occurrence of WAGR syndrome with Peter anomaly has been reported in three other patients to our knowledge.
Keywords
WAGR syndrome, Peter anomaly.
DOI:
http://dx.doi.org/10.16964/er.v1i1.51
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