Abstract:
Gardner syndrome (GS) is a rare autosomal dominant disorder that can present with craniomaxillofacial abnormalities. The identification of osteomas or craniomaxillofacial abnormalities can therefore serve as a marker of this condition, facilitating early referral and diagnosis. A 17-year-old female with GS was referred for the management of severe limited mouth opening, causing a major problem for routine endoscopy to monitor the gastrointestinal alterations of GS. Clinical and radiological evaluations showed multiple osteomas in the mandibular angle, condylar and coronoid regions bilaterally and maximum mouth opening of 8 mm. The patient underwent surgery for osteoma removal and bilateral customized alloplastic total temporomandibular joint replacement (TMJ-TJR). At the 2-year follow-up, the patient showed improvements in quality of life, with a maximum mouth opening of 34 mm, allowing routine upper endoscopy to be performed. This is the first report of GS, a rare and challenging craniomaxillofacial abnormality, treated with TMJ-TJR. A comprehensive overview of the patient\'s clinical presentation, diagnostic assessment, treatment planning, and outcomes is provided.
摘要:
加德纳综合征(GS)是一种罕见的常染色体显性疾病,可伴有颅颌面部异常。因此,识别骨瘤或颅颌面异常可以作为这种情况的标志,促进早期转诊和诊断。一名患有GS的17岁女性因严重张口受限而被转诊,导致常规内窥镜检查以监测GS的胃肠道改变的主要问题。临床和放射学评估显示下颌角多发骨瘤,双侧髁突和冠状突区域,最大张口8毫米。患者接受了骨瘤切除手术和双侧定制的同种异体全颞下颌关节置换术(TMJ-TJR)。在2年的随访中,患者的生活质量有所改善,最大开口为34毫米,允许进行常规的上消化道内窥镜检查。这是GS的第一份报告,罕见且具有挑战性的颅颌面异常,用TMJ-TJR治疗。全面概述患者的临床表现,诊断评估,治疗计划,并提供结果。