Dominant form of arthrogryposis multiplex congenita with limited mouth opening: a clinical and imaging study

J Orofac Pain. 2005 Winter;19(1):82-8.


Aims: Arthrogryposis multiplex congenita (AMC) is characterized by congenital contractures and joint deformities, but there are only a few reports of temporomandibular joint (TMJ) involvement. The objective of this investigation was to study the cause of limited mouth movement in this disease.

Materials and methods: Four individuals from a family affected by AMC over 5 generations were examined clinically and by magnetic resonance imaging (MRI) and 3-dimensional computerized tomography (3D-CT).

Results: The CT scans of the 4 individuals showed hyperplasia of the coronoid process protruding into the infratemporal fossa in 2 of them and cranially to the zygomatic arch in the other 2; the hyperplasia was associated with mechanical limitation of the mouth opening. The MRI showed a disc displacement with reduction in 1 patient and a disc displacement without reduction in another; disc displacement could not be evaluated because of the limited mouth opening in the other 2. The condyle-disc complex of these last 2 individuals could only rotate. The MRI on T2-weighted images showed disc hyposignal in all cases but no alterations in the masticatory muscle tissue. The pedigree of the family suggests an autosomal dominant form of inheritance.

Conclusions: The restriction of mouth opening in the 4 individuals affected by AMC was likely due to osseous dysplasia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Arthrogryposis / genetics
  • Arthrogryposis / pathology
  • Arthrogryposis / physiopathology*
  • Child
  • Diagnosis, Differential
  • Female
  • Genes, Dominant
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mandible / pathology*
  • Pedigree
  • Range of Motion, Articular
  • Temporomandibular Joint / anatomy & histology
  • Temporomandibular Joint / diagnostic imaging
  • Temporomandibular Joint / physiopathology*
  • Temporomandibular Joint Disorders / diagnosis
  • Tomography, X-Ray Computed