Literature DB >> 8135293

Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome.

P Franceschini1, M P Vardeu, A Guala, D Franceschini, A Testa, A Corrias, P Chiabotto.   

Abstract

We report on a 13 1/2-year-old patient with Kabuki make-up syndrome and complete idiopathic precocious puberty manifested at 7 1/2 years. In addition to the other specific clinical signs, she showed hypodontia and lower lip pits, as typically seen in the Van der Woude syndrome. The significance of lower lip pits in the Kabuki make-up syndrome is discussed.

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Year:  1993        PMID： 8135293     DOI： 10.1002/ajmg.1320470326

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  7 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.  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

3.  Hypothalamic pituitary complications in Kabuki syndrome.

Authors:  Naoko Ito; Kenji Ihara; Yasushi Tsutsumi; Noriko Miyake; Naomichi Matsumoto; Toshiro Hara
Journal:  Pituitary       Date:  2013-06       Impact factor: 4.107

4.  The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients.

Authors:  C Schrander-Stumpel; P Meinecke; G Wilson; G Gillessen-Kaesbach; S Tinschert; R König; N Philip; R Rizzo; J Schrander; L Pfeiffer
Journal:  Eur J Pediatr       Date:  1994-06       Impact factor: 3.183

5.  High Fat Diet Triggers a Reduction in Body Fat Mass in Female Mice Deficient for Utx demethylase.

Authors:  Kazushige Ota; Akiyoshi Komuro; Hisayuki Amano; Akinori Kanai; Kai Ge; Takeshi Ueda; Hitoshi Okada
Journal:  Sci Rep       Date:  2019-07-11       Impact factor: 4.379

6.  Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder.

Authors:  Ingrid Anne Mandy Schierz; Salvatore Amoroso; Vincenzo Antona; Mario Giuffrè; Ettore Piro; Gregorio Serra; Giovanni Corsello
Journal:  Ital J Pediatr       Date:  2022-07-29       Impact factor: 3.288

7.  Precocious and Early Central Puberty in Children With Pre-existing Medical Conditions: A Single Center Study.

Authors:  Sarah Winter; Adélaïde Durand; Raja Brauner
Journal:  Front Pediatr       Date:  2019-02-14       Impact factor: 3.418
  7 in total

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