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Updated: May 23, 2026

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McKusick-Kaufman Syndrome: Atretic Upper Vaginal Pouch; an Unusual Urogenital MR Finding
Seyed-Hassan Mostafavi1, Nakysa Hooman, Farideh Hallaji
1Department of Radiology, Iran University of Medical Sciences, Tehran, Iran.
Abstract:
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.
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