Abstract
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.
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