Literature DB >> 31468724

Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders.

Muriel de La Dure-Molla1,2,3, Benjamin Philippe Fournier1,3,4, Maria Cristina Manzanares5, Ana Carolina Acevedo6,7, Raoul C Hennekam8, Lisa Friedlander3,9, Marie-Laure Boy-Lefèvre1,3, Stephane Kerner1,3, Steve Toupenay1,3, Pascal Garrec1,3, Brigite Vi-Fane1,3, Rufino Felizardo1,3, Marie-Violaine Berteretche1,3, Laurence Jordan1,3, François Ferré4, François Clauss3,10,11, Sophie Jung3,10,11, Myriam de Chalendar3, Sebastien Troester3,10,11, Marzena Kawczynski3,10,11, Jessica Chaloyard3, Marie Cécile Manière3,10,11, Ariane Berdal1,3,4, Agnès Bloch-Zupan3,10,11,12,13.   

Abstract

Dental anomalies occur frequently in a number of genetic disorders and act as major signs in diagnosing these disorders. We present definitions of the most common dental signs and propose a classification usable as a diagnostic tool by dentists, clinical geneticists, and other health care providers. The definitions are part of the series Elements of Morphology and have been established after careful discussions within an international group of experienced dentists and geneticists. The classification system was elaborated in the French collaborative network "TÊTECOU" and the affiliated O-Rares reference/competence centers. The classification includes isolated and syndromic disorders with oral and dental anomalies, to which causative genes and main extraoral signs and symptoms are added. A systematic literature analysis yielded 408 entities of which a causal gene has been identified in 79%. We classified dental disorders in eight groups: dental agenesis, supernumerary teeth, dental size and/or shape, enamel, dentin, dental eruption, periodontal and gingival, and tumor-like anomalies. We aim the classification to act as a shared reference for clinical and epidemiological studies. We welcome critical evaluations of the definitions and classification and will regularly update the classification for newly recognized conditions.
© 2019 Wiley Periodicals, Inc.

Entities:  

Keywords:  Anatomy and Histology; Classification; Craniofacial abnormalities; Rare diseases; Terminology; Tooth abnormalities

Year:  2019        PMID: 31468724     DOI: 10.1002/ajmg.a.61316

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  10 in total

1.  Elements of morphology: Standard terminology for the trunk and limbs.

Authors:  Leslie G Biesecker; Margaret P Adam; Brian Hon-Yin Chung; Kenjiro Kosaki; Leonie A Menke; Susan M White; John C Carey; Raoul C M Hennekam
Journal:  Am J Med Genet A       Date:  2022-09-05       Impact factor: 2.578

2.  Oral Phenotype of Singleton-Merten Syndrome: A Systematic Review Illustrated With a Case Report.

Authors:  Margot Charlotte Riou; Muriel de La Dure-Molla; Stéphane Kerner; Sophie Rondeau; Adrien Legendre; Valerie Cormier-Daire; Benjamin P J Fournier
Journal:  Front Genet       Date:  2022-06-09       Impact factor: 4.772

3.  Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity.

Authors:  Eman A Rabie; Inas S M Sayed; Khalda Amr; Hoda A Ahmed; Mostafa I Mostafa; Nehal F Hassib; Heba El-Sayed; Suher K Zada; Ghada El-Kamah
Journal:  Genes (Basel)       Date:  2022-06-13       Impact factor: 4.141

4.  Transcriptional Regulation of Jaw Osteoblasts: Development to Pathology.

Authors:  A Nassif; G Lignon; A Asselin; C C Zadikian; S Petit; H W Sun; C Klein; F C Ferré; M I Morasso; A Berdal; B P J Fournier; J Isaac
Journal:  J Dent Res       Date:  2022-02-11       Impact factor: 8.924

Review 5.  The Human Genetics of Dental Anomalies.

Authors:  Mahamad Irfanulla Khan; Nadeem Ahmed; Praveen Kumar Neela; Nayeem Unnisa
Journal:  Glob Med Genet       Date:  2022-02-25

Review 6.  Factors and Mechanisms Involved in Acquired Developmental Defects of Enamel: A Scoping Review.

Authors:  Anne-Margaux Collignon; Jean-Noël Vergnes; Alice Germa; Sylvie Azogui; Sophie Breinig; Clémence Hollande; Anne-Laure Bonnet; Cathy Nabet
Journal:  Front Pediatr       Date:  2022-02-24       Impact factor: 3.418

7.  Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method.

Authors:  Lisa Friedlander; Marc Vincent; Ariane Berdal; Valérie Cormier-Daire; Stanislas Lyonnet; Nicolas Garcelon
Journal:  Orphanet J Rare Dis       Date:  2022-08-20       Impact factor: 4.303

8.  Dental anomalies and orthodontic characteristics in patients with pseudohypoparathyroidism.

Authors:  Jane Hejlesen; Line Underbjerg; Hans Gjørup; Tanja Sikjaer; Lars Rejnmark; Dorte Haubek
Journal:  BMC Oral Health       Date:  2019-12-31       Impact factor: 2.757

9.  Oral health-related quality of life in patients with X-linked hypophosphatemia: a qualitative exploration.

Authors:  Caroline Nguyen; Elisabeth Celestin; Delphine Chambolle; Agnès Linglart; Martin Biosse Duplan; Catherine Chaussain; Lisa Friedlander
Journal:  Endocr Connect       Date:  2022-01-28       Impact factor: 3.335

10.  TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.

Authors:  Bradley Bowles; Alejandro Ferrer; Carla J Nishimura; Filippo Pinto E Vairo; Tristan Rey; Bruno Leheup; Jennifer Sullivan; Kelly Schoch; Nicholas Stong; Emanuele Agolini; Dario Cocciadiferro; Abigail Williams; Alex Cummings; Sara Loddo; Silvia Genovese; Chelsea Roadhouse; Kirsty McWalter; Ingrid M Wentzensen; Chumei Li; Dusica Babovic-Vuksanovic; Brendan C Lanpher; Maria Lisa Dentici; Arun Ankala; J Austin Hamm; Bruno Dallapiccola; Francesca Clementina Radio; Vandana Shashi; Benedicte Gérard; Agnes Bloch-Zupan; Richard J Smith; Eric W Klee
Journal:  Am J Med Genet A       Date:  2021-05-27       Impact factor: 2.802

  10 in total

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