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

被引：57

作者：

de La Dure-Molla, Muriel ^{[1
,2
,3
]}

Fournier, Benjamin Philippe ^{[1
,3
,4
]}

Cristina Manzanares, Maria ^{[5
]}

Acevedo, Ana Carolina ^{[6
,7
]}

Hennekann, Raoul C. ^{[8
]}

Friedlander, Lisa ^{[3
,9
]}

Boy-Lefevre, Marie-Laure ^{[1
,3
]}

Kerner, Stephane ^{[1
,3
]}

Toupenay, Steve ^{[1
,3
]}

Garrec, Pascal ^{[1
,3
]}

Vi-Fane, Brigite ^{[1
,3
]}

Felizardo, Rufino ^{[1
,3
]}

Berteretche, Marie-Violaine ^{[1
,3
]}

Jordan, Laurence ^{[1
,3
]}

Ferre, Francois ^{[4
]}

Clauss, Francois ^{[3
,10
,11
]}

Jung, Sophie ^{[3
,10
,11
]}

de Chalendar, Myriam ^{[3
]}

Troester, Sebastien ^{[3
,10
,11
]}

Kawczynski, Marzena ^{[3
,10
,11
]}

Chaloyard, Jessica ^{[3
]}

Maniere, Marie Cecile ^{[3
,10
,11
]}

Berdal, Ariane ^{[1
,3
,4
]}

Bloch-Zupan, Agnes ^{[3
,10
,11
,12
,13
]}

Sixou, Jean-Louis ^{[14
]}

Foray, Herve ^{[15
]}

Bonin-Goga, Beatrice ^{[16
]}

Sury, Florent ^{[17
]}

Vaysse, Frederic ^{[18
]}

Ferri, Joel ^{[19
]}

Tardieu, Corinne ^{[20
]}

Alliot-Licht, Brigitte ^{[21
]}

Morrier, Jean-Jacques ^{[22
]}

Droz, Dominique ^{[23
]}

Muller-Bolla, Michele ^{[24
,25
]}

Lopez-Cazaux, Serena ^{[26
]}

Bailleul-Forestier, Isabelle ^{[27
]}

Davit-Beal, Tiphaine ^{[28
,29
]}

Gelle, Marie Paule ^{[30
,31
]}

Jacquelin, Louis Frederic ^{[30
,31
]}

Euvrard, Edouard ^{[32
]}

Ahossi, Victorin ^{[33
]}

机构：

[1] Univ Paris, Hop Rothschild, AP HP, Fac Odontol Garanciere,Ctr Reference Malad Rares, Paris, France

[2] Inst Imagine, Bases Mol & Physiopathol Osteochondrodysplasies, INSERM UMR S1163, Paris, France

[3] Hop Necker Enfants Malad, Filiere Sante Malad Rares TETECOU Malformat Rares, Paris, France

[4] Univ Paris Diderot & Paris Descartes, Ctr Rech Cordeliers, INSERM UMR 51138, Lab Physiopathol Orale Mol, Paris, France

[5] Univ Barcelona, Fac Med & Ciencies Salut, Dept Patol & Terapeut Expt, Unitat Anat & Embriol Humana, Barcelona, Spain

[6] Univ Brasilia, Univ Hosp Brasilia, Ral Care Ctr Inherited Dis, Brasilia, DF, Brazil

[7] Univ Brasilia, Hlth Sci Sch, Dept Dent, Brasilia, DF, Brazil

[8] Univ Amsterdam, Dept Pediat, Amsterdam UMC Locat AMC, Amsterdam, Netherlands

[9] INSERM UMR S1123, Epidemiol Clin Evaluat Econ Populat Vulnerables, ECEVE, Paris, France

[10] Univ Strasbourg, Fac Chirurg Dent, Strasbourg, France

[11] Hop Univ Strasbourg, ERN CRANIO, CRMR O Rares, Ctr Reference Malad Rares Orales & Dent,Pole Med, Strasbourg, France

[12] Univ Strasbourg, CNRS UMR7104, INSERM U1258, Ctr Europeen Rech Biol & Med,Inst Genet & Biol Mo, Illkirch Graffenstaden, France

[13] Univ Strasbourg, USIAS, Inst Etud Avancees, Strasbourg, France

[14] CHU Rennes, Serv Odontol & Chirurg Buccale, Rennes, France

[15] CHU Brest, Serv Odontol & Chirurg Buccale, Brest, France

[16] CHRU Hop Tours, Hop Clocheville, Serv Chirurg Maxillofaciale Plast Face & Stomatol, Tours, France

[17] CHU Tours, Tours, France

[18] CHU Toulouse, Hop Rangueil Maraichers, Serv Odontol, Toulouse, France

[19] CHRU Lille, Hop Roger Salengro, Serv Odontol & Chirurg Maxillofaciale, Lille, France

[20] Hop La Timone, AP HP, Pole Odontol Ctr Dent, Marseille, France

[21] CHU Nantes, Odontol Conservatrice & Pediat, Site Hotel Dieu, Nantes, France

[22] Hosp Civils Lyon, Hop Nord, Serv Consultat & Traitements Dent, Lyon, France

[23] CHU Nancy, Serv Odontol, Nancy, France

[24] Univ Nice Sophia Antipolis, CHU Nice, UFR Odontol, Dept Odontol Pediat, Nice, France

[25] Paris Descartes, 10URB2i, EA 4462, Paris, France

[26] CHU Hotel Dieu, Dept Odontol Pediat, Fac Chirurg Dent, Serv Odontol Conservatrice & Pediat, Nantes, France

[27] Univ Paul Sabatier, CHU Toulouse, Odontol Pediat, Fac Chirurg Dent, Toulouse, France

[28] Univ Paris 05, Fac Chirurg Dent, Dept Odontol Pediat, Montrouge, France

[29] Univ Paris 06, SAE UMR7138, EDS, Paris, France

[30] Univ Reims, Fac Odontol, 2 Rue Gen Koenig, F-51100 Reims, France

[31] Lab EA BIOS 4691, 1 Rue Marechal Juin, F-51100 Reims, France

[32] Ctr Hosp Reg Univ Besancon, Site Jean Minjoz, CICIT Unite INSERM 1431, Besancon, France

[33] CHU Dijon Bourgogne, Dijon, France

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2019年 / 179卷 / 10期

关键词：

Anatomy and Histology; Classification; Craniofacial abnormalities; Rare diseases; Terminology; Tooth abnormalities; MOLAR-INCISOR MALFORMATION; RARE DISEASES; MUTATIONS; DYSPLASIA; PREVALENCE; DIAGNOSIS; CLASSIFICATION; RETENTION; ANOMALIES; MAXILLARY;

D O I：

10.1002/ajmg.a.61316

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 "TETECOU" 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.

引用

页码：1913 / 1981

页数：69

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