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

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.

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

Preoperative computed tomography of bilaterally ankylosed temporomandibular joints on coronal view.

Fig. 3

Postoperative panoramic radiograph showing a gap between the glenoid fossa and the reduced condylar head on both sides.