Literature DB >> 12608719

The Kabuki syndrome: four patients with oral abnormalities.

D Petzold1, E Kratzsch, Ch Opitz, S Tinschert.   

Abstract

The aim of this paper is to report the oral signs and symptoms of four patients with Kabuki syndrome. All had oral abnormalities affecting the palate, teeth, and/or lips, including wide spacing between the teeth, screwdriver-shaped upper incisors, hypodontia, delayed tooth eruption, narrow spacing in the upper canine area, large pulp chambers of the upper incisors and permanent molars, external root resorption of the upper central incisors and permanent molars, a division of the lower third of the root canal in normally one-rooted teeth, tooth retention, retrognathia of the upper jaw, a high palate or cleft lip/palate, and microforms of lower lip fistula.

Entities:  

Mesh:

Year:  2003        PMID: 12608719     DOI: 10.1093/ejo/25.1.13

Source DB:  PubMed          Journal:  Eur J Orthod        ISSN: 0141-5387            Impact factor:   3.075


  8 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.  Kabuki Make-up Syndrome - A Case Report with Electromyographic study.

Authors:  Atul Sattur; Pallavi K Deshmukh; Lijoy Abrahim; Venkatesh G Naikmasur
Journal:  J Clin Diagn Res       Date:  2014-11-20

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.  Endodontic management of a hypertaurodontic tooth associated with 48, XXYY syndrome: A review and case report.

Authors:  Sridevi Krishnamoorthy; Velayutham Gopikrishna
Journal:  J Conserv Dent       Date:  2015 May-Jun

Review 5.  Update on 13 Syndromes Affecting Craniofacial and Dental Structures.

Authors:  Theodosia N Bartzela; Carine Carels; Jaap C Maltha
Journal:  Front Physiol       Date:  2017-12-14       Impact factor: 4.566

6.  Orofacial features and medical profile of eight individuals with Kabuki syndrome.

Authors:  N Silva-Andrade; K López-Ortega; M Gallottini
Journal:  Med Oral Patol Oral Cir Bucal       Date:  2019-09-01

7.  Single-Cell Transcriptome Analysis Defines Expression of Kabuki Syndrome-Associated KMT2D Targets and Interacting Partners.

Authors:  Badam Enkhmandakh; Paul Robson; Pujan Joshi; Anushree Vijaykumar; Dong-Guk Shin; Mina Mina; Dashzeveg Bayarsaihan
Journal:  Stem Cells Int       Date:  2022-08-12       Impact factor: 5.131

Review 8.  Kabuki Syndrome-Clinical Review with Molecular Aspects.

Authors:  Snir Boniel; Krystyna Szymańska; Robert Śmigiel; Krzysztof Szczałuba
Journal:  Genes (Basel)       Date:  2021-03-25       Impact factor: 4.096

  8 in total

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