Hanna Sepsick, Boyu Ma, Shane Yann Chang Kau, Kathlyn Powell, Chung H Kau
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引用次数: 0
摘要
15q11.2微缺失综合征,也称为Burnside-Butler综合征,是一种罕见的部分常染色体单体,与一系列神经发育、认知和行为障碍有关。由于其不典型的发生和有限的研究,颅面表现与这种微缺失仍然很少记录。本研究报道了一例15q11.2微缺失综合征患者的严重中脸发育不全的新病例,采用两期手术方法治疗,并回顾了同时进行Le Fort III/I型截骨术的文献。第一阶段包括同时进行Le Fort III和Le Fort I截骨术,然后进行中脸牵引,而第二阶段包括正畸治疗和随后的Le Fort I和双侧矢状劈开截骨术。本报告强调了该综合征颅面异常处理的复杂性,并强调了多学科方法对最佳结果的重要性。
Simultaneous Le Fort III and Le Fort I Osteotomies for Rare Midfacial Hypoplasia in a Patient with 15q11.2 Microdeletion-A Multidisciplinary Approach.
15q11.2 microdeletion syndrome, also known as Burnside-Butler syndrome, is a rare partial autosomal monosomy associated with a spectrum of neurodevelopmental, cognitive, and behavioral disorders. Due to its atypical occurrence and limited research, craniofacial manifestations linked to this microdeletion remain poorly documented. This study presents a novel case of severe midface hypoplasia in a patient with 15q11.2 microdeletion syndrome, treated with a 2-stage surgical approach, and a review of the literature for simultaneous Le Fort III/I osteotomies. The first phase involved simultaneous Le Fort III and Le Fort I osteotomies followed by midface distraction, while the second phase included orthodontic treatment and a subsequent Le Fort I and bilateral sagittal split osteotomy. This report highlights the complexity of managing craniofacial anomalies in this syndrome and underscores the importance of a multidisciplinary approach for optimal outcomes.
期刊介绍:
The Cleft Palate-Craniofacial Journal (CPCJ) is the premiere peer-reviewed, interdisciplinary, international journal dedicated to current research on etiology, prevention, diagnosis, and treatment in all areas pertaining to craniofacial anomalies. CPCJ reports on basic science and clinical research aimed at better elucidating the pathogenesis, pathology, and optimal methods of treatment of cleft and craniofacial anomalies. The journal strives to foster communication and cooperation among professionals from all specialties.