Extensive genitourinary anomalies have not been well established as an associated finding in patients with the Klippel-Feil syndrome. A 15-year-old girl with this syndrome was discovered to have major genitourinary malformations, including an imperforate hymen and atretic lower vagina as well as absence of the uterus and all but a small remnant of the fallopian tubes. No left ovary was found by direct inspection, and an intravenous pyelogram disclosed nonvisualization of the left kidney. The association of extensive genitourinary abnormalities with the Klippel-Feil syndrome is supported by this and two recently reported similar cases.
Mecklenburg RS, Krueger PM. Extensive Genitourinary Anomalies Associated With Klippel-Feil Syndrome. Am J Dis Child. 1974;128(1):92–93. doi:10.1001/archpedi.1974.02110260094019
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