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. STUDY DESIGN: 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.
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. STUDY DESIGN: Seven FOPpatients 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 FOPpatients.
Authors: Peter Hammond; Michael Suttie; Raoul C Hennekam; Judith Allanson; Eileen M Shore; Frederick S Kaplan Journal: Am J Med Genet A Date: 2012-05-11 Impact factor: 2.802
Authors: Ton Schoenmaker; Amine Dahou Bouchankouk; Semih Özkan; Marjolijn Gilijamse; Elinor Bouvy-Berends; Coen Netelenbos; Frank Lobbezoo; Elisabeth Marelise W Eekhoff; Teun J de Vries Journal: Front Med (Lausanne) Date: 2022-03-22