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J Radiol Case Rep. 2009;3(5):1-5. doi: 10.3941/jrcr.v3i5.126. Epub 2009 May 1.

McKusick-Kaufman Syndrome: Atretic Upper Vaginal Pouch; an Unusual Urogenital MR Finding.

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Department of Radiology, Iran University of Medical Sciences, Tehran, Iran.


McKusick-Kaufman syndrome is a rare autosomal recessive disease diagnosed by polydactyly, hydrometrocolpos, and congenital heart disease. We present an unusual laparotomy confirmed urogenital MRI finding (atretic vaginal pouch) in a 3-month-old girl with McKusick-Kaufman syndrome. Up to our knowledge, this MR finding has not been reported in the literature yet.


MRI; McKusick-Kaufman; hydrometra; hydrometrocolpos; polydactyly; vaginal atresia

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