麦库西克-考夫曼综合征：闭锁性阴道上隐窝；一种不寻常的泌尿生殖系统磁共振成像表现。
McKusick-Kaufman Syndrome: Atretic Upper Vaginal Pouch; an Unusual Urogenital MR Finding.
作者信息
Mostafavi Seyed-Hassan, Hooman Nakysa, Hallaji Farideh
机构信息
Department of Radiology, Iran University of Medical Sciences, Tehran, Iran.
出版信息
J Radiol Case Rep. 2009;3(5):1-5. doi: 10.3941/jrcr.v3i5.126. Epub 2009 May 1.
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.
摘要
麦库西克-考夫曼综合征是一种罕见的常染色体隐性疾病，通过多指畸形、阴道积血积脓和先天性心脏病来诊断。我们报告了一名3个月大患有麦库西克-考夫曼综合征的女孩，其经剖腹探查证实的泌尿生殖系统磁共振成像（MRI）异常发现（闭锁阴道囊袋）。据我们所知，这一MRI发现尚未见文献报道。
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