Literature DB >> 15185812

Oral manifestations in Ellis-van Creveld syndrome: report of five cases.

Abel Cahuana1, Camila Palma, Wilber Gonzáles, Esther Geán.   

Abstract

Ellis-van Creveld syndrome, or chondroectodermal dysplasia, is an autosomal recessive disorder with characteristic clinical manifestations. Its incidence in the general population is low. The oral manifestations of Ellis-van Creveld are found in soft tissues and teeth, but the dental literature on the subject is scarce. In the last 20 years, 5 cases of Ellis-van Creveld syndrome have been followed at the Pediatric Dentistry Service of the Hospital Sant Joan de Déu, Barcelona. The present study describes the constant and variable oral findings in these patients, which play an important role in the diagnosis criteria for the syndrome. The presence of a great variety of oral manifestations such as fusion of the upper lip to the gingival margin, presence of multiple frenula, abnormally shaped and microdontic teeth, and congenitally missing teeth requires multidisciplinary dental treatment, with consideration for the high incidence of cardiac defects in these patients.

Entities:  

Mesh:

Year:  2004        PMID: 15185812

Source DB:  PubMed          Journal:  Pediatr Dent        ISSN: 0164-1263            Impact factor:   1.874


  17 in total

1.  Hand and foot abnormalities associated with genetic diseases.

Authors:  Henry J Mankin; Jesse Jupiter; Carol Ann Trahan
Journal:  Hand (N Y)       Date:  2010-10-26

Review 2.  Aetiology of supernumerary teeth: a literature review.

Authors:  R P Anthonappa; N M King; A B M Rabie
Journal:  Eur Arch Paediatr Dent       Date:  2013-09-26

3.  Single-rooted primary first mandibular molar.

Authors:  SelvaKumar Haridoss; Kavitha Swaminathan; Vijayakumar Rajendran; Bharathan Rajendran
Journal:  BMJ Case Rep       Date:  2014-08-22

Review 4.  The epidemiology of supernumerary teeth and the associated molecular mechanism.

Authors:  Xi Lu; Fang Yu; Junjun Liu; Wenping Cai; Yumei Zhao; Shouliang Zhao; Shangfeng Liu
Journal:  Organogenesis       Date:  2017-06-09       Impact factor: 2.500

5.  Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome.

Authors:  Lisong Shi; Chunyan Luo; Mairaj K Ahmed; Ali B Attaie; Xiaoqian Ye
Journal:  Mol Genet Genomics       Date:  2015-11-30       Impact factor: 3.291

6.  Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.

Authors:  Muhammad Umair; Heide Seidel; Ishtiaq Ahmed; Asmat Ullah; Tobias B Haack; Bader Alhaddad; Abid Jan; Afzal Rafique; Tim M Strom; Farooq Ahmad; Thomas Meitinger; Wasim Ahmad
Journal:  J Genet       Date:  2017-12       Impact factor: 1.166

Review 7.  Craniofacial ciliopathies: A new classification for craniofacial disorders.

Authors:  Samantha A Brugmann; Dwight R Cordero; Jill A Helms
Journal:  Am J Med Genet A       Date:  2010-12       Impact factor: 2.802

8.  A rare case report of Ellis Van Creveld syndrome in an Indian patient and literature review.

Authors:  Prashanth Shetty; Deepthi Shetty; P S Priyadarshana; Smitha Bhat
Journal:  J Oral Biol Craniofac Res       Date:  2015-06-10

9.  Ellis-van Creveld syndrome: A rare clinical entity.

Authors:  Reet Kamal; Parveen Dahiya; Simerpreet Kaur; Rohit Bhardwaj; Karun Chaudhary
Journal:  J Oral Maxillofac Pathol       Date:  2013-01

10.  Ellis-van Creveld syndrome in an Indian child: a case report.

Authors:  K M Veena; H Jagadishchandra; Prasanna Kumar Rao; Laxmikanth Chatra
Journal:  Imaging Sci Dent       Date:  2011-12-19
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.