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Background <p>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.</p> Methods <p>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.</p> Results <p>The 3-year postoperative follow-up reveals the functional stability of the therapeutic proposal with substantial improvement in quality of life.</p> Conclusion <p>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.</p>

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Upper Airway Morphologic Changes in Rubinstein–Taybi Syndrome After Orthognathic Surgery: A Case Report

  • 期刊论文

  • 发表日期：

    2025年4月14日

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  • Everton José da Silva,
  • Natália Garcia Santaella,
  • Isabella Romão Candido,
  • Francisco Nunes Júnior,
  • Luiz Evaristo Ricci Volpato,
  • Alexandre Meireles Borba

摘要

Background

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.

Methods

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.

Results

The 3-year postoperative follow-up reveals the functional stability of the therapeutic proposal with substantial improvement in quality of life.

Conclusion

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.