Orthognathic surgery in a case of infantile facioscapulohumeral muscular dystrophy with macroglossia

Marcus Stephan Kriwalsky, Marcus Deschauer, Alexander Walter Eckert, Johannes Schubert, Stephan Zierz

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


Introduction: 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. Case report: 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.

Original languageEnglish
Pages (from-to)195-198
Number of pages4
JournalOral and Maxillofacial Surgery
Issue number4
StatePublished - 2008
Externally publishedYes


  • Frontal open bite
  • Muscular dystrophy
  • Neuromuscular disease
  • Orthognathic surgery
  • Tongue reduction


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