Waardenburg syndrome with familial unilateral renal agenesis: a new syndrome variant?
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.
Edward Via College of Osteopathic Medicine, Blacksburg, Virginia, USA.|East Alabama Medical Center, Opelika, Alabama, USA.
Katie M
KM
Webb
Edward Via College of Osteopathic Medicine, Blacksburg, Virginia, USA.|East Alabama Medical Center, Opelika, Alabama, USA.
Alisha J
AJ
Smith
East Alabama Medical Center, Opelika, Alabama, USA.
Linda M
LM
Dansby
East Alabama Medical Center, Opelika, Alabama, USA.
Charles J
CJ
Diskin
D001002:Anuria / Q000209:etiology*; D000013:Congenital Abnormalities / Q000000981:diagnostic imaging / Q000209:etiology*; D006801:Humans; D007668:Kidney / Q000002:abnormalities* / Q000000981:diagnostic imaging; D007674:Kidney Diseases / Q000151:congenital* / Q000000981:diagnostic imaging / Q000209:etiology; D008297:Male; D008875:Middle Aged; D014463:Ultrasonography; D014849:Waardenburg Syndrome / Q000175:diagnosis / Q000503:physiopathology*
Neural crest cells; Neurogenic mesenchyme; Renal agenesis; Waardenburg syndrome