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      Dental Approach to Craniofacial Syndromes: How Can Developmental Fields Show Us a New Way to Understand Pathogenesis?

      review-article
      *
      International Journal of Dentistry
      Hindawi Publishing Corporation

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          Abstract

          The paper consists of three parts. Part 1: Definition of Syndromes. Focus is given to craniofacial syndromes in which abnormal traits in the dentition are associated symptoms. In the last decade, research has concentrated on phenotype, genotype, growth, development, function, and treatment. Part 2: Syndromes before Birth. How can the initial malformation sites in these syndromes be studied and what can we learn from it? In this section, deviations observed in syndromes prenatally will be highlighted and compared to the normal human embryological craniofacial development. Specific focus will be given to developmental fields studied on animal tissue and transferred to human cranial development. Part 3: Developmental Fields Affected in Two Craniofacial Syndromes. Analysis of primary and permanent dentitions can determine whether a syndrome affects a single craniofacial field or several fields. This distinction is essential for insight into craniofacial syndromes. The dentition, thus, becomes central in diagnostics and evaluation of the pathogenesis. Developmental fields can explore and advance the concept of dental approaches to craniofacial syndromes. Discussion. As deviations in teeth persist and do not reorganize during growth and development, the dentition is considered useful for distinguishing between syndrome pathogenesis manifested in a single developmental field and in several fields.

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          Most cited references106

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          Craniofacial birth defects: The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention.

          Of all the babies born with birth defects, approximately one-third display anomalies of the head and face [Gorlin et al., 1990] including cleft lip, cleft palate, small or absent facial and skull bones and improperly formed nose, eyes, ears, and teeth. Craniofacial disorders are a primary cause of infant mortality and have serious lifetime functional, esthetic, and social consequences that are devastating to both children and parents alike. Comprehensive surgery, dental care, psychological counseling, and rehabilitation can help ameliorate-specific problems but at great cost over many years which dramatically affects national health care budgets. For example, the Center for Disease Control and Prevention estimates that the lifetime cost of treating the children born each year with cleft lip and/or cleft palate alone to be US$697 million. Treating craniofacial malformations, of which in excess of 700 distinct syndromes have been described, through comprehensive, well-coordinated and integrated strategies can provide satisfactory management of individual conditions, however, the results are often variable and rarely fully corrective. Therefore, better techniques for tissue repair and regeneration need to be developed and therapeutic avenues of prevention need to be explored in order to eliminate the devastating consequences of head and facial birth defects. To do this requires a thorough understanding of the normal events that control craniofacial development during embryogenesis. This review therefore focuses on recent advances in our understanding of the basic etiology and pathogenesis of a rare craniofacial disorder known as Treacher Collins syndrome and emerging prospects for prevention that may have broad application to congenital craniofacial birth defects.
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            Development of the dentition in cleidocranial dysplasia.

            The purpose of the present investigation was to describe the formation, maturation and eruption of the dentition, including supernumerary teeth in a sample of patients with cleidocranial dysplasia. The dentition was evaluated from orthopantomograms, intraoral radiographs, cephalometric films, surgically removed teeth and intraoral photographs in 19 patients (9 men, 10 women), aged 3.5 to 34 years. Formation of primary teeth was normal, whereas all patients but one had supernumerary permanent teeth. Frequency of supernumerary teeth ranged from 22% in the maxillary incisor region to 5% in the molar regions. Supernumerary teeth were formed lingually and occlusally to the normal teeth. Maturation of the primary dentition was normal, while permanent teeth were delayed from 1 to 4 yr. Supernumerary teeth were delayed about 4 years in relation to normal permanent teeth. Eruption of primary teeth was normal, whereas all patients had severe eruption problems of permanent teeth. It was hypothesized that the dental lamina for both primary and permanent dentition is normal, but does not resolve completely and therefore may form supernumerary teeth. Abnormalities of tooth morphology is related to inadequate space and arrested eruption. Delayed or arrested eruption is probably caused by diminished resorption of bone and of primary teeth and to the presence of multiple supernumerary teeth.
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              Dento-craniofacial phenotypes and underlying molecular mechanisms in hypohidrotic ectodermal dysplasia (HED): a review.

              The hypohidrotic ectodermal dysplasias (HED) belong to a large and heterogeneous nosological group of polymalfomative syndromes characterized by dystrophy or agenesis of ectodermal derivatives. Molecular etiologies of HED consist of mutations of the genes involved in the Ectodysplasin (EDA)-NF-kappaB pathway. Besides the classic ectodermal signs, craniofacial and bone manifestations are associated with the phenotypic spectrum of HED. The dental phenotype of HED consists of various degrees of oligodontia with other dental abnormalities, and these are important in the early diagnosis and identification of persons with HED. Phenotypic dental markers of heterozygous females for EDA gene mutation-moderate oligodontia, conical incisors, and delayed dental eruption-are important for individuals giving reliable genetic counseling. Some dental ageneses observed in HED are also encountered in non-syndromic oligodontia. These clinical similarities may reflect possible interactions between homeobox genes implicated in early steps of odontogenesis and the Ectodysplasin (EDA)-NF-kappaB pathway. Craniofacial dysmorphologies and bone structural anomalies are also associated with the phenotypic spectrum of persons with HED patients. The corresponding molecular mechanisms involve altered interactions between the EDA-NF-kappaB pathway and signaling molecules essential in skeletogenic neural crest cell differentiation, migration, and osteoclastic differentiation. Regarding oral treatment of persons with HED, implant-supported prostheses are used with a relatively high implant survival rate. Recently, groundbreaking experimental approaches with recombinant EDA or transgenesis of EDA-A1 were developed from the perspective of systemic treatment and appear very promising. All these clinical observations and molecular data allow for the specification of the craniofacial phenotypic spectrum in HED and provide a better understanding of the mechanisms involved in the pathogenesis of this syndrome.
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                Author and article information

                Journal
                Int J Dent
                Int J Dent
                IJD
                International Journal of Dentistry
                Hindawi Publishing Corporation
                1687-8728
                1687-8736
                2012
                2 October 2012
                : 2012
                : 145749
                Affiliations
                Department of Orthodontics, Institute of Odontology, Faculty of Health Sciences, University of Copenhagen, 20 Nørre Allé, DK-2200 Copenhagen, Denmark
                Author notes
                *Inger Kjær: ik@ 123456sund.ku.dk

                Academic Editor: Adriana Modesto Vieira

                Article
                10.1155/2012/145749
                3467949
                23091490
                764ca9b7-8952-4994-8884-613f47efc26c
                Copyright © 2012 Inger Kjær.

                This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 7 May 2012
                : 10 July 2012
                : 25 July 2012
                Categories
                Review Article

                Dentistry
                Dentistry

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