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      Dental and Maxillofacial Manifestations of Axenfeld–Rieger Syndrome: Presentation of a Case in a 5-Year-Old Girl

      case-report
      Author(s): ,
      Publication date (Electronic):
      Journal: Case Reports in Dentistry
      Publisher: Hindawi

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          Abstract

          In this case study, the dental and maxillofacial manifestations of a 5-year-old girl with Axenfeld–Rieger syndrome (ARS) are described. This syndrome is characterized by craniomaxillofacial, ocular, dental, and umbilical disorders. The patient presented ocular dyscoria and corectopia, iris abnormalities, midface hypoplasia with a thin upper lip, and a protruded lower lip. Hyperplastic maxillary labial frenulum, oligodontia, ghost teeth, bilateral Class III molar and canine relationship, and right posterior crossbite were also found. An everted umbilicus with redundant periumbilical skin was evident. Early diagnosis of ARS is essential to establishing preventive and corrective measures that provide a good quality of life for patients who suffer from this syndrome.

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          Axenfeld-Rieger syndrome in the age of molecular genetics.

          Wallace L.M. Alward (2000)
          To review the molecular genetics of Axenfeld-Rieger syndrome and related phenotypes and to discuss how this information might affect the way that we classify these disorders. A review of historical and recent literature on Axenfeld-Rieger syndrome and related disorders. The review includes clinical and molecular genetic literature relevant to these phenotypes. Three chromosomal loci have recently been demonstrated to link to Axenfeld-Rieger syndrome and related phenotypes. These loci are on chromosomes 4q25, 6p25, and 13q14. The genes at chromosomes 4q25 and 6p25 have been identified as PITX2 and FKHL7, respectively. Mutations in these genes can cause a wide variety of phenotypes that share features with Axenfeld-Rieger syndrome. Axenfeld anomaly, Rieger anomaly, Rieger syndrome, iridogoniodysgenesis anomaly, iridogoniodysgenesis syndrome, iris hypoplasia, and familial glaucoma iridogoniodysplasia all have sufficient genotypic and phenotypic overlap that they should be considered one condition. Axenfeld-Rieger syndrome is a term that can be used to describe a variety of overlapping phenotypes. To date, at least three known genetic loci can cause these disorders. The single most important feature of these phenotypes is that they confer a 50% or greater risk of developing glaucoma. Currently there is a fairly arbitrary grouping of disorders into small categories. Considering all of these phenotypes under the heading of Axenfeld-Rieger syndrome will allow easier communication between clinicians and scientists and eliminate arbitrary and confusing subclassification.
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            A review of anterior segment dysgeneses.

            Faisal Idrees, Daniela Vaideanu, Scott Fraser … (2015)
            The anterior segment dysgeneses are an ill-defined group of ocular developmental abnormalities that share some common features and have a high prevalence of glaucoma. Current classification of what are and what are not anterior segment dysgeneses seems to vary and our knowledge of them is incomplete. As the limits of classical clinical medicine based on evaluation of signs and symptoms are reached, further advancements increasingly will come from molecular medicine and genetics. In this article we review the normal and abnormal development of the anterior segment (concentrating primarily upon neural crest derived dysgeneses), describe the various clinical entities produced and their diagnosis, and discuss the current knowledge of the genetics of these disorders. We also suggest a new approach to the classification of anterior segment dysgeneses, based upon the embryological contribution to the formation of the anterior segment of the eye.
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              The Axenfeld syndrome and the Rieger syndrome.

              M M Kaback, N Fitch (1978)
              A family is reported in which both the syndrome of Axenfeld and the eye malformations of the syndrome of Rieger occur, indicating that both may be expressions of the same gene. We also review the associated anomalies already reported, emphasise their high incidence, suggest that these are not accidental associations, and propose some possible explanations for the high incidence.
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                Author and article information

                Contributors
                Carlos-Martín Ardila:
                ORCID: https://orcid.org/0000-0002-3663-1416
                Journal
                Journal ID (nlm-ta): Case Rep Dent
                Journal ID (iso-abbrev): Case Rep Dent
                Journal ID (publisher-id): CRID
                Title: Case Reports in Dentistry
                Publisher: Hindawi
                ISSN (Print): 2090-6447
                ISSN (Electronic): 2090-6455
                Publication date Collection: 2022
                Publication date (Electronic): 2 August 2022
                Volume: 2022
                Electronic Location Identifier: 4348264
                Affiliations
                Universidad de Antioquia, Medellín, Colombia
                Author notes

                Academic Editor: Maria Beatriz Duarte Gavião

                Author information
                https://orcid.org/0000-0002-3663-1416
                https://orcid.org/0000-0003-0328-4902
                Article
                DOI: 10.1155/2022/4348264
                PMC ID: 9363210
                PubMed ID: 35957627
                SO-VID: 7a750f8f-33ba-45ae-ab5d-e756b593e6a2
                Copyright © Copyright © 2022 Carlos-Martín Ardila and Efraín Álvarez-Martínez.
                License:

                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
                Date received : 22 December 2021
                Date revision received : 22 June 2022
                Date accepted : 12 July 2022
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Dentistry
                Data availability:
                ScienceOpen disciplines: Dentistry

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