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Case Reports
. 2022 Jun 30;48(3):178-181.
doi: 10.5125/jkaoms.2022.48.3.178.

Temporomandibular joint ankylosis in Williams syndrome patient: an insight on the function of elastin in temporomandibular joint disorder

Jaeman Woo  1 , Choi-Ryang Lee  2 , Jin-Young Choi  3
Affiliations
Case Reports

Temporomandibular joint ankylosis in Williams syndrome patient: an insight on the function of elastin in temporomandibular joint disorder

Jaeman Woo et al. J Korean Assoc Oral Maxillofac Surg. .

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.

Keywords: Ankylosis; Arthroplasty; Elastin; Temporomandibular joint; Williams-Beuren syndrome.

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Conflict of interest statement

Conflict of Interest

No potential conflict of interest relevant to this article was reported.

Figures

Fig. 1
Fig. 1
A. FISH (fluorescence in situ hybridization) assay diagnostic of Williams–Beuren syndrome (WS). B. Facial features: micrognathia, short nose, long philtrum, thick lips, and long face and neck typical of WS. C. Initial maximal mouth opening (MMO) of 11 mm. Oligodontia is also notable. D. Intraoperative MMO of 40 mm after release of temporomandibular joint (TMJ) ankylosis. E. Section of patient TMJ stained with H&E showing typical mixed bony and fibrous tissue of TMJ ankylosis.
Fig. 2
Fig. 2
Preoperative computed tomography of bilaterally ankylosed temporomandibular joints on coronal view.
Fig. 3
Fig. 3
Postoperative panoramic radiograph showing a gap between the glenoid fossa and the reduced condylar head on both sides.
See this image and copyright information in PMC

References

    1. Martens MA, Wilson SJ, Reutens DC. Research review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype. J Child Psychol Psychiatry. 2008;49:576–608. doi: 10.1111/j.1469-7610.2008.01887.x. https://doi.org/10.1111/j.1469-7610.2008.01887.x. - DOI - PubMed
    1. Copes LE, Pober BR, Terilli CA. Description of common musculoskeletal findings in Williams syndrome and implications for therapies. Clin Anat. 2016;29:578–89. doi: 10.1002/ca.22685. https://doi.org/10.1002/ca.22685. - DOI - PubMed
    1. Coombs MC, Petersen JM, Wright GJ, Lu SH, Damon BJ, Yao H. Structure-function relationships of temporomandibular retrodiscal tissue. J Dent Res. 2017;96:647–53. doi: 10.1177/0022034517696458. https://doi.org/10.1177/0022034517696458. - DOI - PMC - PubMed
    1. Leonardi R, Villari L, Bernasconi G, Caltabiano M. Histochemical study of the elastic fibers in pathologic human temporomandibular joint discs. J Oral Maxillofac Surg. 2001;59:1186–92. doi: 10.1053/joms.2001.26723. https://doi.org/10.1053/joms.2001.26723. - DOI - PubMed
    1. Keith DA. Elastin in the bovine mandibular joint. Arch Oral Biol. 1979;24:211–5. doi: 10.1016/0003-9969(79)90142-0. https://doi.org/10.1016/0003-9969(79)90142-0. - DOI - PubMed

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