Literature DB >> 1469590

Anorectal anomalies associated with Kabuki make-up syndrome.

M Matsumura1, R Yamada, Y Kitani, T Nishi, H Yamamoto, Y Oahama, Y Kuroki.   

Abstract

A case report of a 3-year-old girl with Kabuki make-up syndrome (KMS) associated with anovestibular fistula is presented. To our knowledge, 62 patients with KMS have been reported in the literature, three of whom were described as having an anorectal anomaly. Including the present patient, all four KMS patients were females with anovestibular fistula.

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Year:  1992        PMID： 1469590     DOI： 10.1016/0022-3468(92)90523-a

Source DB:  PubMed          Journal:  J Pediatr Surg        ISSN： 0022-3468            Impact factor:   2.545


  4 in total

1.  Report of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation.

Authors:  I Ratbi; N Fejjal; L Micale; B Augello; C Fusco; J Lyahyai; G Merla; A Sefiani
Journal:  Mol Syndromol       Date:  2013-01-30

2.  Anesthesia management in a patient with kabuki syndrome.

Authors:  Yunus Oktay Atalay; Cengiz Kaya; Yasemin Burcu Ustun; Ali Haydar Sahinoglu
Journal:  Med Arch       Date:  2014-10-15

3.  Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome.

Authors:  Nancy Mizue Kokitsu-Nakata; Aline Lourenço Petrin; Jason Paul Heard; Siulan Vendramini-Pittoli; Laura E Henkle; Daniela Vera Cruz dos Santos; Jeffrey Clark Murray; Antonio Richieri-Costa
Journal:  Am J Med Genet A       Date:  2012-06-27       Impact factor: 2.802

4.  Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment.

Authors:  Sotirios Siminas; Colin Tennant Baillie; Richard Turnock
Journal:  European J Pediatr Surg Rep       Date:  2015-05-28
  4 in total

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