Literature DB >> 22470656

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

Seyed-Hassan Mostafavi1, Nakysa Hooman, Farideh Hallaji.   

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.

Entities:  

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

Year:  2009        PMID： 22470656      PMCID： PMC3303312          DOI： 10.3941/jrcr.v3i5.126

Source DB:  PubMed          Journal:  J Radiol Case Rep        ISSN： 1943-0922


  15 in total

1.  Hematocolpos in double vagina associated with uterus didelphus: US and MR findings.

Authors:  L Ballesio; C Andreoli; M L De Cicco; M L Angeli; L Manganaro
Journal:  Eur J Radiol       Date:  2003-02       Impact factor: 3.528

2.  Antenatal MR diagnosis of urinary hydrometrocolpos due to urogenital sinus.

Authors:  Subramanian Subramanian; Raju Sharma; Shivanand Gamanagatti; Sandeep Agarwala; Prerna Gupta; Sunesh Kumar
Journal:  Pediatr Radiol       Date:  2006-06-30

3.  Fetal urogenital sinus with consecutive hydrometrocolpos because of labial fusion: prenatal diagnostic difficulties and postpartal therapeutic management.

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Journal:  Fetal Diagn Ther       Date:  2008-04-14       Impact factor: 2.587

4.  Communicating bicornuate uterus with double cervix and septate vagina: an uncommon malformation diagnosed with MR imaging.

Authors:  A La Fianza; R Campani; A Villa; R Dore; E M Di Maggio; L Preda; G C Bertolotti
Journal:  Eur Radiol       Date:  1997       Impact factor: 5.315

5.  [The value of the MR imaging in the evaluation of Müllerian duct anomalies].

Authors:  D Console; S Tamburrini; D Barresi; L Notarangelo; B Bertucci; O Tamburrini
Journal:  Radiol Med       Date:  2001-10       Impact factor: 3.469

6.  Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.

Authors:  A David; P Bitoun; D Lacombe; J C Lambert; A Nivelon; J Vigneron; A Verloes
Journal:  J Med Genet       Date:  1999-08       Impact factor: 6.318

7.  MRI in the evaluation of müllerian duct anomalies.

Authors:  K Marten; R Vosshenrich; M Funke; S Obenauer; F Baum; E Grabbe
Journal:  Clin Imaging       Date:  2003 Sep-Oct       Impact factor: 1.605

8.  Further delineation of the McKusick-Kaufman hydrometrocolpos-polydactyly syndrome.

Authors:  D Chitayat; S Y Hahm; R W Marion; G S Sachs; D Goldman; R G Hutcheon; R Weiss; S Cho; H M Nitowsky
Journal:  Am J Dis Child       Date:  1987-10

9.  Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome.

Authors:  Sebastian Kos; Katharina Roth; Dirk Korinth; Georg Zeilinger; Georg Eich
Journal:  Pediatr Radiol       Date:  2008-05-14

10.  Pallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity?

Authors:  K M Unsinn; N Neu; A Krejci; A Posch; G Menardi; I Gassner
Journal:  J Med Genet       Date:  1995-02       Impact factor: 6.318
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  2 in total

1.  Mckusick-kaufman syndrome: diagnosis and management.

Authors:  Ahmed H Al-Salem; Sharif H Abdel-Aziz
Journal:  J Neonatal Surg       Date:  2014-01-01

2.  Mckusick-kaufman syndrome presenting as acute intestinal obstruction.

Authors:  Ramesh B Hatti; Ashok V Badakali; R N Vanaki; Mahantesh S Samalad
Journal:  J Neonatal Surg       Date:  2013-01-01
  2 in total

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