title: Craniofacial findings in fibrodysplasia ossificans progressiva: computerized tomography evaluation.
abstract: OBJECTIVE
  The aim of this study was the evaluation by using computerized tomography (CT) of craniofacial abnormalities in fibrodysplasia ossificans progressiva (FOP) patients regarding jaw restriction and retrognathia.
  
  
  METHODS
  Seven FOP patients were evaluated retrospectively in this observational study. Inclusion criteria were detection of ACVR1 gene mutation and complete craniofacial CT examination. The age of jaw restriction and presence of retrognathia were clinically determined. The features analyzed were skull base structures and heterotopic ossification (HO).
  
  
  RESULTS
  Of this group (age range 4-23 years), the 3 oldest patients presented with jaw restriction and retrognathia as well as displayed elongation of the lateral pterygoid plate with HO of the pterygoid muscles that reached the medial surface of the right mandibular ramus. They had significant history of trauma or surgery. The other 4 patients did not have retrognathia or HO involving the facial or masticatory muscles, and the mouth opening was normal.
  
  
  CONCLUSIONS
  CT evaluation can reveal HO of the pterygoid muscles that probably may cause jaw restriction and retrognathia in older FOP patients.
authors.affiliation: Genetics Unit, SARAH Network of Rehabilitation Hospitals, Brasilia-DF, Brazil. danielcarvalho@sarah.br
authors.forename: Daniel Rocha
authors.initials: DR
authors.lastname: Carvalho
authors.forename: Luciano
authors.initials: L
authors.lastname: Farage
authors.forename: Bernardo Jose Alves Ferreira
authors.initials: BJ
authors.lastname: Martins
authors.forename: Carlos Eduardo
authors.initials: CE
authors.lastname: Speck-Martins
mesh_terms: D030201:Activin Receptors, Type I / Q000235:genetics; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D008334:Mandible / Q000002:abnormalities* / Q000503:physiopathology; D008844:Micrognathism / Q000000981:diagnostic imaging; D020125:Mutation, Missense; D009221:Myositis Ossificans / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology*; D009999:Ossification, Heterotopic / Q000473:pathology*; D010256:Paranasal Sinuses / Q000000981:diagnostic imaging; D011626:Pterygoid Muscles / Q000473:pathology*; D016059:Range of Motion, Articular; D063173:Retrognathia / Q000000981:diagnostic imaging; D012189:Retrospective Studies; D019291:Skull Base / Q000000981:diagnostic imaging / Q000473:pathology; D013100:Sphenoid Bone / Q000000981:diagnostic imaging; D013704:Temporomandibular Joint / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed; D055815:Young Adult
chemical_list: C425423:ACVR1 protein, human; D030201:Activin Receptors, Type I