Literature DB >> 18647516

Kabuki Syndrome with additional dental findings: a case report.

Dilsah Cogulu1, Ozant Oncag, Elif Celen, Ferda Ozkinay.   

Abstract

Kabuki Syndrome (KS) is a multiple congenital anomalies/mental retardation syndrome of unknown etiology. It is characterized by a dysmorphic face, postnatal growth retardation, skeletal abnormalities, mental retardation, and unusual dermatoglyphic patterns. The characteristic dental findings include hypodontia, microdontia, absence of upper lateral and lower central incisors and upper molars, abnormal tooth shape, widely spaced teeth, ectopic upper molars and malocclusion. The purpose of this report is to describe common and additional dental findings and dental treatment of an 11-year old female patient with KS. This case report emphasises the importance of oral and dental manifestations for diagnosis.

Entities:  

Mesh:

Year:  2008        PMID: 18647516

Source DB:  PubMed          Journal:  J Dent Child (Chic)        ISSN: 1551-8949


  4 in total

Review 1.  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

2.  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

3.  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 4.  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

  4 in total

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