title: Orthognathic surgery in a case of infantile facioscapulohumeral muscular dystrophy with macroglossia.
abstract: BACKGROUND
  Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder with a shortened fragment of a D4Z4 repeat on chromosome 4q35. The infantile form of FSHD is relatively rare.
  
  
  METHODS
  Within this case report, we describe the orthognatic surgery in a patient with infantile FSHD to diminish the functional and esthetic disturbances in the orofacial region. We saw a 20-year-old female patient suffering from infantile FSHD with remarkable macroglossia and frontal open bite. Diagnosis was based on molecular genetic investigations. To improve the functions of the stomatognathic system, we performed a tongue reduction and a segment osteotomy in the frontal aspect of the mandible. The patient was satisfied with the functional and esthetic results. Lip competence and occlusion were significantly improved. Thus, orthognatic surgery can enhance oral function, facial esthetics, and general quality of life.
authors.affiliation: Martin-Luther-University Halle-Wittenberg, Halle, Germany. drmsk@gmx.de
authors.forename: Marcus Stephan
authors.initials: MS
authors.lastname: Kriwalsky
authors.forename: Marcus
authors.initials: M
authors.lastname: Deschauer
authors.forename: Alexander Walter
authors.initials: AW
authors.lastname: Eckert
authors.forename: Johannes
authors.initials: J
authors.lastname: Schubert
authors.forename: Stephan
authors.initials: S
authors.lastname: Zierz
mesh_terms: D017668:Age of Onset; D002894:Chromosomes, Human, Pair 4; D005260:Female; D005927:Glossectomy / Q000379:methods*; D006801:Humans; D008260:Macroglossia / Q000209:etiology / Q000601:surgery*; D008334:Mandible / Q000601:surgery; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000150:complications / Q000235:genetics / Q000601:surgery*; D024343:Open Bite / Q000209:etiology / Q000601:surgery*; D017384:Sequence Deletion; D055815:Young Adult