title: The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement.
abstract: 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.
authors.affiliation: Paediatric Dentistry Department, Paris 7 University; AP-HP, Hôtel-Dieu, Garancière, Paris, France. isabelle.bailleul@univ-paris-diderot.fr
authors.forename: Isabelle
authors.initials: I
authors.lastname: Bailleul-Forestier
authors.forename: Ariane
authors.initials: A
authors.lastname: Berdal
authors.forename: Frans
authors.initials: F
authors.lastname: Vinckier
authors.forename: Thomy
authors.initials: T
authors.lastname: de Ravel
authors.forename: Jean Pierre
authors.initials: JP
authors.lastname: Fryns
authors.forename: Alain
authors.initials: A
authors.lastname: Verloes
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000567:Amelogenesis Imperfecta / Q000235:genetics; D000848:Anodontia / Q000235:genetics; D003743:Dental Enamel / Q000002:abnormalities; D003811:Dentinogenesis Imperfecta / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000235:genetics; D006801:Humans; D010013:Osteogenesis Imperfecta / Q000235:genetics; D010641:Phenotype; D013577:Syndrome; D014070:Tooth / Q000502:physiology; D014071:Tooth Abnormalities / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*