title: Anomalies of tooth formation in hypohidrotic ectodermal dysplasia.
abstract: OBJECTIVE
  The X-linked hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia. The clinical identification of possible heterozygous females can be difficult because of the varying degrees of clinical signs caused by X-chromosome inactivation. This study is the first to elaborate on anomalies of tooth formation found in a group of hemizygous males and heterozygous females with known ED1 mutations. These tooth anomalies may be used as dental biomarkers for heterozygous females, enabling an earlier diagnosis, and therefore, better treatment and genetic counselling.
  
  
  METHODS
  Anomalies of tooth formation were examined using panoramic radiographs, dental casts and oral photographs in hemizygous males and heterozygous females who were identified by molecular genetic analysis. The results were compared to existing controls and normative data.
  
  
  RESULTS
  All affected males had multiple missing permanent teeth and tooth malformations. The heterozygous females had a significantly higher frequency of agenesis of permanent teeth compared to normative data. The heterozygous females had an increased prevalence of tooth malformations and reduced tooth size, especially in the mesiodistal dimension.
  
  
  CONCLUSIONS
  We conclude that observed anomalies of tooth formation may be used as dental biomarkers in the clinical identification of potentially heterozygous females.
authors.affiliation: Department of Paediatric Dentistry and Clinical Genetics, University of Copenhagen, Copenhagen, Denmark. mol@odont.ku.dk
authors.forename: Michala O
authors.initials: MO
authors.lastname: Lexner
authors.forename: Allan
authors.initials: A
authors.lastname: Bardow
authors.forename: Jens Michael
authors.initials: JM
authors.lastname: Hertz
authors.forename: Lis A
authors.initials: LA
authors.lastname: Nielsen
authors.forename: Sven
authors.initials: S
authors.lastname: Kreiborg
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000848:Anodontia / Q000209:etiology; D015415:Biomarkers; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000150:complications* / Q000175:diagnosis; D005260:Female; D006579:Heterozygote; D006801:Humans; D007180:Incisor / Q000002:abnormalities; D008297:Male; D008875:Middle Aged; D003765:Models, Dental; D008963:Molar / Q000002:abnormalities; D009154:Mutation / Q000235:genetics; D009811:Odontometry; D023861:Photography, Dental; D011862:Radiography, Panoramic; D014071:Tooth Abnormalities / Q000209:etiology* / Q000235:genetics; D019228:Tooth Crown / Q000002:abnormalities; D014092:Tooth Root / Q000002:abnormalities
chemical_list: D015415:Biomarkers