Instituto Português da Face, Lisbon, Portugal; Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal; Clinica Universitária de Estomatologia, Centro Hospitalar Universitário Lisboa Norte (CHUNL), Lisbon, Portugal.
Clinica Universitária de Estomatologia, Centro Hospitalar Universitário Lisboa Norte (CHUNL), Lisbon, Portugal.
Int J Oral Maxillofac Surg. 2024 Mar;53(3):219-222. doi: 10.1016/j.ijom.2023.10.032. Epub 2023 Nov 18.
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.
Gardner 综合征（GS）是一种罕见的常染色体显性遗传病，可表现出头面部骨骼异常。因此，发现骨瘤或头面部骨骼异常可作为该疾病的标志物，有助于早期转诊和诊断。一名 17 岁的女性 GS 患者因严重张口受限就诊，这给监测 GS 的胃肠道改变的常规内镜检查带来了重大问题。临床和影像学评估显示双侧下颌角、髁突和喙突区域有多个骨瘤，最大张口度为 8mm。患者接受了骨瘤切除术和双侧定制全颞下颌关节置换术（TMJ-TJR）。在 2 年的随访中，患者的生活质量得到了改善，最大张口度为 34mm，可进行常规上消化道内镜检查。这是首例 GS 病例报告，GS 是一种罕见且具有挑战性的头面部骨骼异常，采用 TMJ-TJR 治疗。本文全面介绍了患者的临床表现、诊断评估、治疗计划和预后。
