The genetic basis of inherited anomalies of the teeth. Part 2: Syndromes with significant dental involvement

被引：60

作者：

Bailleul-Forestier, Isabelle ^{[1
,3
]}

Berdal, Ariane ^{[2
]}

Vinckier, Frans

de Ravel, Thomy ^{[3
]}

Fryns, Jean Pierre ^{[3
]}

Verloes, Alain ^{[4
,5
]}

机构：

[1] Univ Paris 07, Paediat Dent Dept, Hotel Dieu, AP HP,UFR Odontol, F-75006 Paris, France

[2] Univ Paris 06, Univ Paris 07, INSERM,Cordeliers Res Ctr, Hotel Dieu,AP HP,UMRS Mol Oral Physiopathol 872, Paris, France

[3] Catholic Univ Louvain, Dept Human Genet, B-3000 Louvain, Belgium

[4] Hop Robert Debre, AP HP, Dept Med Genet, Clin Genet Unit, F-75019 Paris, France

[5] Hop Robert Debre, AP HP, INSERM, U676, F-75019 Paris, France

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2008年 / 51卷 / 05期

关键词：

Syndromic amelogenesis imperfecta; Syndromic enamel defects; Syndromic dentinogenesis imperfecta; Osteogenesis imperfecta; Syndromic hypodontia; Ectodermal dysplasia; Axenfeld-Rieger malformation;

D O I：

10.1016/j.ejmg.2008.05.003

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

Teeth are specialized structural components of the craniofacial skeleton. Developmental defects occur either alone or in combination with other birth defects. In this paper, we review the dental anomalies in several multiple congenital anomaly (MCA) syndromes, in which the dental component is pivotal in the recognition of the phenotype and/or the molecular basis of the disorder is known. We will consider successively syndromic forms of amelogenesis imperfecta or enamel defects, dentinogenesis imperfecta (i.e. osteogenesis imperfecta) and other dentine anomalies. Focusing on dental aspects, we will review a selection of MCA syndromes associated with teeth number and/or shape anomalies. A better knowledge of the dental phenotype may contribute to an earlier diagnosis of some MCA syndromes involving teeth anomalies. They may serve as a diagnostic indicator or help confirm a syndrome diagnosis. (c) 2008 Elsevier Masson SAS. All rights reserved.

引用

页码：383 / 408

页数：26

共 169 条

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Dento-osseous changes as diagnostic markers in familial adenomatous polyposis families [J].