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Apert syndrome - a rare genetic disorder characterized by craniofacial abnormalities, syndactyly (fusion of fingers and toes), and various health complications - presents unique challenges. Currently, there is a scarcity of educational materials dedicated to it, which hinders healthcare professionals in their quest for reliable, consolidated information - essential for accurate diagnosis and treatment. Apert syndrome's complexity demands a comprehensive approach, and by offering a resource that delves into both the medical aspects and the psychological and social dimensions, we aim to enhance the overall quality of life for individuals and families living with this condition.
This unique open access text brings together a broad spectrum of topics, including the genetic basis of the syndrome, its clinical presentation, detailed diagnosis and assessment guidelines and tools, medical and surgical management strategies, insights into the psychosocial aspects of patients, and a look at future directions.
Apert Syndrome is a uniquely positioned text based on a global, equitable and diverse perspective that fills a crucial knowledge gap in the understanding, diagnosis and care of individuals. It will have a profound impact on the medical and educational communities, offering invaluable insights and guidance.
Inhaltsverzeichnis
Section I. General Principles.- Introduction.- Eugène Apert: More than a Simple Syndrome.- Head and Neck and Extremity Anatomy.- Molecular Genetics and Pathophysiology.- Clinical Genetic Aspects.- Diagnosis and Imaging.- Section II. Surgical Management.- Perioperative and Anesthesia Management.- Ophthalmic Evaluation.- Surgery on the Eyes and Eyelids.- Otologic Disorders.- Cleft Palate.- Orthodontic Care.- Airway Assessment and Management.- Neurosurgical Considerations.- Early Surgery: Endoscopic Strip Craniectomy (ESC).- Management of the Posterior Vault.- Two-Stage Strategy: FOA and Le Fort III.- Monobloc Advancement with Internal Distraction.- Monobloc Advancement with External Distraction.- Midface Management: The CHOP Approach and the Role of Monobloc with Le Fort II Advancement.- Hypertelorism Correction: Monobloc Facial Bipartition with Internal Distraction.- Hypertelorism Correction: Box Osteotomy.- Segmental Subcranial Midface Osteotomies: Le Fort II with Zygomatic Repositioning.- Le Fort III Distraction with or without Facial Bipartition.- Orthognathic Surgery I.- Orthognathic Surgery II.- Virtual Surgical Planning for Orthognathic Surgery.- Aesthetic Refinements.- Aesthetic Refinements During Adolescence.- Innovations and Emerging Technologies in Craniofacial Surgery.- Surgical Treatment of the Apert Hand.- Management of the Apert Foot.- Section III. Patient, Family, and Community.- Neurocognitive Implications, Etiological Mechanisms, and Clinical Care Recommendations.- Social and Psychological Impacts and Recommendations.- Living with Apert Syndrome: Patient Perspectives.- Caring for a Child with Apert Syndrome: Family Perspectives, Advocacy, and Support.- Economic Considerations for the Treatment of Syndromic Craniosynostosis.- Global Health Policy and Advocacy.
Über den Autor / die Autorin
John G. Meara, MD, DMD, MBA, Department of Plastic and Oral Surgery, Boston Children's Hospital, Boston, MA, USA
Mark Proctor, MD, Department of Neurosurgery, Boston Children's Hospital, Boston, MA, USA
Nivaldo Alonso, MD, Department of Plastic Surgery, University of São Paulo, São Paulo, Brazil
Zusammenfassung
Apert syndrome - a rare genetic disorder characterized by craniofacial abnormalities, syndactyly (fusion of fingers and toes), and various health complications - presents unique challenges. Currently, there is a scarcity of educational materials dedicated to it, which hinders healthcare professionals in their quest for reliable, consolidated information - essential for accurate diagnosis and treatment. Apert syndrome's complexity demands a comprehensive approach, and by offering a resource that delves into both the medical aspects and the psychological and social dimensions, we aim to enhance the overall quality of life for individuals and families living with this condition.
This unique open access text brings together a broad spectrum of topics, including the genetic basis of the syndrome, its clinical presentation, detailed diagnosis and assessment guidelines and tools, medical and surgical management strategies, insights into the psychosocial aspects of patients, and a look at future directions.
Apert Syndrome is a uniquely positioned text based on a global, equitable and diverse perspective that fills a crucial knowledge gap in the understanding, diagnosis and care of individuals. It will have a profound impact on the medical and educational communities, offering invaluable insights and guidance.
