title: Establishing the diagnostic criteria for eruption disorders based on genetic and clinical data.
abstract: BACKGROUND
  Proper diagnosis and management of eruption disturbances remains challenging but is critical to a functional occlusion. The objective of this study was to establish definitive criteria to differentiate and diagnose eruption disorders, specifically primary failure of eruption (PFE) and ankylosis.
  
  
  METHODS
  Sixty-four affected persons were placed into 3 cohorts: PFE diagnosed through confirmed PTH1R mutation (n = 11), PFE diagnosed based on clinical criteria (n = 47), and ankylosis diagnosed based on clinical criteria (n = 6). These groups were assessed to identify clinical features that differentiate PFE and ankylosis.
  
  
  RESULTS
  Ninety-three percent of the subjects in the genetic and clinical PFE cohorts combined (n = 58) and 100% in the genetic PFE cohort had at least 1 infraoccluded first permanent molar. Additionally, a novel functional PTH1R mutation, 1092delG, was identified and linked to PFE in the deciduous dentition.
  
  
  CONCLUSIONS
  An infraoccluded, supracrestal first molar is a hallmark of PFE, often involving both arches in the permanent or deciduous dentition, and with unilateral or bilateral affection, infraoccluded second premolar or second molar, and multiple affected adjacent teeth. Our results further suggest that PFE and ankylosis might be clinically indistinguishable without knowledge of prior trauma, treatment history, genetic information, or obliteration of the periodontal ligament space.
authors.affiliation: Department of Orthodontics, School of Dentistry, University of North Carolina, Chapel Hill, NC, USA.
authors.forename: Stephanie Golubic
authors.initials: SG
authors.lastname: Rhoads
authors.forename: Heather M
authors.initials: HM
authors.lastname: Hendricks
authors.forename: Sylvia A
authors.initials: SA
authors.lastname: Frazier-Bowers
mesh_terms: D000293:Adolescent; D001641:Bicuspid / Q000473:pathology; D002508:Cephalometry / Q000379:methods; D002648:Child; D015331:Cohort Studies; D005091:Exons / Q000235:genetics; D056726:Genetic Association Studies; D005838:Genotype; D006147:Guanine; D006801:Humans; D008313:Malocclusion, Angle Class III / Q000503:physiopathology; D008963:Molar / Q000473:pathology; D010641:Phenotype; D023861:Photography, Dental; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D016300:Radiography, Bitewing; D011862:Radiography, Panoramic; D044168:Receptor, Parathyroid Hormone, Type 1 / Q000235:genetics; D017384:Sequence Deletion / Q000235:genetics; D020254:Tooth Ankylosis / Q000175:diagnosis / Q000235:genetics; D014076:Tooth Diseases / Q000175:diagnosis / Q000235:genetics; D014078:Tooth Eruption / Q000502:physiology*; D014079:Tooth Eruption, Ectopic / Q000175:diagnosis / Q000235:genetics; D014092:Tooth Root / Q000002:abnormalities; D014094:Tooth, Deciduous / Q000503:physiopathology; D014095:Tooth, Impacted / Q000175:diagnosis / Q000235:genetics; D014097:Tooth, Unerupted / Q000175:diagnosis / Q000235:genetics
chemical_list: C473449:PTH1R protein, human; D044168:Receptor, Parathyroid Hormone, Type 1; D006147:Guanine