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Apert Syndrome: Oral, Maxillofacial and Dental Management-A Narrative Clinical Review
Nikolaos G A Kolomvos1, Thomai Papadaki2, Gregoris Venetis3
1Department of Oral and Maxillofacial Surgery, School of Dentistry, National and Kapodistrian University of Athens, 2 Thivon Street, Goudi, Athens 11527, Greece.
Abstract:
Apert syndrome is a rare genetic disorder characterized by premature fusion of the cranial sutures, syndactyly of the extremities, and distinct craniofacial deformities. The condition results from mutations in the FGFR2 gene, which disrupt normal craniofacial growth and lead to complex functional and morphological abnormalities. Patients with Apert syndrome commonly present with stomatognathic abnormalities, which significantly affect oral function and facial development. The management of Apert syndrome requires a multidisciplinary therapeutic approach. Surgical treatment strategies are typically staged according to the patient's age and clinical severity. Early interventions focus on cranial vault expansion procedures, such as fronto-orbital advancement and posterior vault distraction osteogenesis, aiming to relieve intracranial pressure and improve cranial morphology. During childhood and adolescence, midface advancement techniques are commonly performed to address midfacial hypoplasia and associated functional impairments. Early diagnosis and appropriate surgical planning play a crucial role in preventing complications and improving the functional, aesthetic, and psychosocial outcomes of patients with Apert syndrome. This narrative review summarizes current evidence while highlighting areas of ongoing controversy, particularly regarding surgical sequencing, orthodontic management and the integration of digital technologies into multidisciplinary care.
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