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Waardenburg Syndrome With Familial Unilateral Renal Agenesis: A New Syndrome Variant?
Author(s) -
Webb Katie M,
Smith Alisha J,
Dansby Linda M,
Diskin Charles J
Publication year - 2015
Publication title -
therapeutic apheresis and dialysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.415
H-Index - 53
eISSN - 1744-9987
pISSN - 1744-9979
DOI - 10.1111/1744-9987.12244
Subject(s) - medicine , waardenburg syndrome , renal agenesis , anuria , agenesis , surgery , kidney , genetics , gene , phenotype , biology
A 64‐year‐old man with Waardenburg syndrome presented with anuria and was subsequently discovered by renal ultrasound to have unilateral renal agenesis. The patient is one of three generations with incidental finding of renal agenesis also marked by the presence of Waardenburg syndrome. To our knowledge, there has been no mention elsewhere in the scientific literature of a variant of Waardenburg syndrome with associated renal agenesis.