da Silva Everton José, Santaella Natália Garcia, Candido Isabella Romão, Júnior Francisco Nunes, Volpato Luiz Evaristo Ricci, Borba Alexandre Meireles
Faculty of Dentistry of the University of Cuiabá, Research Program in Integrated Dental Sciences, Cuiabá, Brazil.
Department of Oral and Maxillofacial Surgery, Cancer Hospital of Cuiaba, Cuiabá, MT 78055-500 Brazil.
J Maxillofac Oral Surg. 2025 Jun;24(3):753-757. doi: 10.1007/s12663-025-02535-y. Epub 2025 Apr 14.
Rubinstein-Taybi syndrome (RTS) is a genetic disease characterized by important developmental changes, among which craniofacial abnormalities with negative repercussions on the volume of the upper airways stand out. The treatment of dentofacial deformities associated with TRS in adulthood includes orthognathic surgery to correct the positioning of the jaws, providing functional benefits such as adequate dental occlusion, stability of mandibular movements and airways expansion. The aim of this report is to present the management of an adult individual with RTS who presented significant craniofacial deformity, severe obstructive sleep apnea and sequelae from previous surgical interventions.
The recommended treatment consisted of performing bimaxillary orthognathic surgery for maxillomandibular advancement, combined with a new total reconstruction of the temporomandibular joints with customized prostheses.
The 3-year postoperative follow-up reveals the functional stability of the therapeutic proposal with substantial improvement in quality of life.
The management of changes from Rubinstein-Taybi syndrome stills as a challenge. The orthognathic surgery associated with total reconstruction of the TMJs with customized prostheses provided correction of skeletal changes in the face of the individual with Rubinstein-Taybi syndrome in this case, with evident improvement in chewing and breathing, as well as aesthetic improvement reported by patient.
鲁宾斯坦-泰比综合征（RTS）是一种遗传性疾病，其特征为重要的发育变化，其中颅面异常对上呼吸道容积产生负面影响。成年期与RTS相关的牙颌面畸形的治疗包括正颌手术，以矫正颌骨位置，提供诸如适当的牙合、下颌运动稳定性和气道扩张等功能益处。本报告的目的是介绍一名成年RTS患者的治疗情况，该患者存在明显的颅面畸形、严重的阻塞性睡眠呼吸暂停以及既往手术干预的后遗症。
推荐的治疗方法包括进行双颌正颌手术以实现上颌下颌前移，并结合使用定制假体对颞下颌关节进行全新的全面重建。
术后3年的随访显示治疗方案功能稳定，生活质量有显著改善。
鲁宾斯坦-泰比综合征相关变化的治疗仍然是一项挑战。在本病例中，与使用定制假体对颞下颌关节进行全面重建相关的正颌手术矫正了鲁宾斯坦-泰比综合征患者面部的骨骼变化，咀嚼和呼吸明显改善，患者也报告了美观方面的改善。
