PDF(Pubmed)
Abstract：
Ectodermal dysplasia, a heterogeneous group of rare genetic disorders, is characterized by the aberrant development of ectodermal structures, leading to various clinical anomalies. This case report presents a unique and challenging case of a 33-year-old male with ectodermal dysplasia who underwent Le Fort III advancement and implant rehabilitation surgery to address severe craniofacial and dental deficiencies. This case, characterized by facial dysmorphism, craniofacial anomalies, and the absence of a nasal bone, highlights the complexity of surgical planning required to address these diverse clinical features. The crucial element of this report is the innovative approach to airway management through trans mylohyoid/submental intubation, which successfully navigated the patient\'s aberrant anatomy. Multidisciplinary collaboration played a pivotal role in achieving a holistic and patient-centered approach. By sharing this case, we aim to provide insights into the nuances of managing complex patients with ectodermal dysplasia, emphasizing the importance of individualized care, innovative techniques, and interdisciplinary teamwork to optimize patient outcomes and contribute to advancing medical knowledge.
摘要：
外胚层发育不良,一组异质性的罕见遗传疾病，以外胚层结构的异常发育为特征，导致各种临床异常。此病例报告介绍了一个独特而具有挑战性的案例，该案例涉及一名33岁的外胚层发育不良男性，他接受了LeFortIII推进和植入物康复手术，以解决严重的颅面和牙齿缺陷。这个案子,以面部畸形为特征，颅面异常,没有鼻骨，强调了解决这些不同临床特征所需的手术计划的复杂性.本报告的关键要素是通过经舌骨/下颌下插管进行气道管理的创新方法，成功地导航了病人的异常解剖结构。多学科合作在实现整体和以患者为中心的方法方面发挥了关键作用。通过分享这个案例，我们的目标是提供对复杂外胚层发育不良患者管理的细微差别的见解，强调个性化护理的重要性，创新技术,和跨学科的团队合作，以优化患者的结果，并有助于提高医学知识。
