A case of McKusick-Kaufman Syndrome.

We are reporting a rare case of McKusick- Kaufman Syndrome in a ten-month old female infant from Addis Ababa with difficulty of urination often days duration. Clinical exam revealed supra-pubic mass with tenderness and had left hand postaxial polydactily. Ultrasound and CT scans showed the mass to be hydrometrocolpos posterior to the bladder. Intravenous urography revealed a lower abdomen-pelvic mass displacing and compressing the ureters with bilateral hydronephrosis. Further pelvic exam under anaesthesia revealed hydrometrocolpos with vaginal agenesis. This, to the best knowledge of the authors, is the first ever reported case of the syndrome in Ethiopia.