Journal of the Korean Association of Oral and Maxillofacial Surgeons

The Korean Association of Oral and Maxillofacial Surgeons (대한구강악안면외과학회)
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Temporomandibular joint ankylosis in Williams syndrome patient: an insight on the function of elastin in temporomandibular joint disorder

  • Woo, Jaeman (Department of Oral and Maxillofacial Surgery, Jeju National University College of Medicine) ;
  • Lee, Choi-Ryang (Department of Oral and Maxillofacial Surgery, Seoul National University Dental Hospital) ;
  • Choi, Jin-Young (Department of Oral and Maxillofacial Surgery, Seoul National University School of Dentistry)
  • Received : 2021.07.21
  • Accepted : 2021.09.27
  • Published : 2022.06.30
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Abstract

Williams-Beuren syndrome (WS) is a rare genetic disorder that results from microdeletion at chromosome 7, which harbors the elastin gene. Clinical findings include arteriopathy, aortic stenosis, hypertension, and laxities and contractures in different joints throughout the body. While many components of the temporomandibular joint (TMJ) normally contain elastin, there are few reports on TMJ manifestations of WS. This study reports a TMJ ankylosis case in a WS patient and shares insight on a possible link between development of TMJ ankylosis and elastin deficiency in WS patients. A WS patient presented with bilateral TMJ ankylosis and was successfully treated with TMJ gap arthroplasty. Hypermobility of TMJ and lack of elastin in retrodiscal tissue can induce anterior disc displacement without reduction. Due to lack of elastin, which has a significant role in the compensatory and reparatory mechanism of TMJ, WS patients might be prone to TMJ ankylosis.

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References

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