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Arthrogryposis multiplex congenita with maxillofacial involvement: a case report
Stefano Cirillo1, Daniele Regge2, Umberto Garagiola3
1Department of Radiology, Mauriziano Umberto I Hospital, Turin, Italy.
Maxillofacial Plastic and Reconstructive Surgery
|February 8, 2023
Summary
Arthrogryposis multiplex congenita can affect the face, causing asymmetry and limited jaw movement. Conservative orthognathodontic treatment is recommended for this rare condition due to muscle damage.
Area of Science:
- Medical Case Reports
- Orthodontics
- Genetics
Background:
- Arthrogryposis multiplex congenita (AMC) is a rare disorder primarily affecting lower limbs with joint deformities.
- AMC can present with heterogeneous manifestations, including maxillofacial involvement.
Purpose of the Study:
- To report a case of AMC with significant maxillofacial and masticatory muscle involvement.
- To discuss diagnostic and therapeutic strategies for AMC affecting the stomatognathic system.
Main Methods:
- Clinical evaluation of a 20-year-old patient with AMC, skeletal crossbite, and facial asymmetry.
- Utilized advanced imaging (CT, MRI) and functional assessments (EMG, axiography) for diagnosis.
- Conservative orthognathodontic treatment with function generating bite and exercises was proposed.
Main Results:
- Diagnosed unilateral left mandibular hypoplasia, masticatory muscle hypotrophy, and condylar immobility.
- Identified reduced electromyography activity and fatty infiltration in left masticatory muscles.
- Confirmed skeletal asymmetry and limited mandibular movement.
Conclusions:
- AMC with maxillofacial involvement necessitates a patient-centered, multidisciplinary approach.
- Conservative orthognathodontic therapy is a suitable option for AMC patients with masticatory muscle damage.
