| Literature DB >> 31468724 |
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.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