Craniofacial Microsomia and Treacher Collins Syndrome: Comprehensive Treatment of Associated Facial Deformities

Description

The book provides a framework for diagnosis and treatment of the complex facial deformities found in craniofacial microsomia and Treacher Collins syndrome. These conditions are difficult to treat due to their complexity and variable presentation. The deformities may be mild or severe and merely cosmetic to life-threatening in nature. These conditions often manifest as complex facial deformities that require multiple surgical interventions. Timing is critical when treating these patients and knowing and choosing the correct operation is key to successful outcomes. This work provides a comprehensive approach in treating these complex patient populations, seeking to answer the following questions: When to operate versus when to wait? If operating is required what operation should be performed? What is the best orthodontic approach to the associated dental deformities that develop with these conditions? How should sleep apnea be evaluated and treated in this population? What is the best management for feeding patients with these conditions? Written by experts in the field, Craniofacial Microsomia and Treacher Collins Syndrome: Comprehensive Treatment of Associated Facial Deformities aims to provide the reader with literature based best practices in treating these children from the NICU through childhood and into adulthood. Foreword Preface Contents Contributors Part I: Craniofacial Microsomia CFM Chapter 1: Etiology and Anatomical Variance in Craniofacial Microsomia Introduction Pathogenesis Vascular Abnormalities and Hemorrhage Abnormal Cranial Neural Crest Cells Classification Kaban-Pruzansky Classification OMENS Classification OMENS Plus Classification Clinical Features Conclusions References Chapter 2: Initial Evaluation of a Patient with Craniofacial Microsomia Introduction Craniofacial Microsomia Classification Systems Skeletal Deformity Classifications Auricular Deformity Classification Soft Tissue Deformity Classifications Multisystem Deformity Classifications SAT Classification System OMENS Classification (Vento, 1991) Phenotypic Assessment Tool for Craniofacial Microsomia Patient Evaluation and Diagnosis Prenatal Period Neonatal Period 0–12 Months Childhood and Adolescence Differential Diagnosis Summary Citations Chapter 3: A Look at Breathing, Feeding/Swallowing, and Speech Impairment in Patients with Craniofacial Microsomia Introduction Breathing Anatomy and Physiology of Normal Swallowing Oral Phase Pharyngeal Phase Esophageal Phase Feeding/Swallowing for Patients with Craniofacial Microsomia (CFM) Mandible Poor Coordination of Respiration/Swallowing Misdirection of the Bolus into the Airway: Laryngeal Penetration and Aspiration Pharyngeal Weakness Cleft Palate and Nasopharyngeal Regurgitation Extracranial Anomalies That Impact Swallowing Normal Speech and Language Development Speech and Language Development for a Child with CFM Case Studies Case Study #1 Case Study #2 References Chapter 4: Extracraniofacial Manifestations of Craniofacial Microsomia Introduction Etiology Classification of Craniofacial Microsomia Extracraniofacial Anomalies Associated with Craniofacial Microsomia Vertebral and Central Nervous System Developmental Disorders Cardiac Extremity Genitourinary Gastrointestinal Respiratory Conclusion References Chapter 5: Management of the Mandibular Deformity in the Growing Patient with Craniofacial Microsomia Treatment of the Growing Child Functional Appliance Treatment Early Orthodontic Treatment Early Mandibular Operation and Immediate Postsurgical Dental Appliance References Chapter 6: Surgical Management of Hemifacial Microsomia with Temporomandibular Joint Malformation Introduction Classification Clinical and Imaging Features Autogenous Bone Grafts (ABGs) Costochondral Grafts (CCGs) Sternoclavicular Grafts (SCGs) Vascularized Fibula Grafts Distraction Osteogenesis Patient-Fitted TMJ Total Joint Prosthesis Biomet Microfixation System TMJ Concepts System Virtual Surgical Planning (VSP) Surgical Management of HFM Patients Surgical Sequencing Surgical Protocol Periarticular Fat Grafts Age of Surgical Intervention Outcome Studies Comparative Studies: Autogenous Bone Grafts Versus Alloplastic TMJ Reconstruction TMJ Concepts Outcome Studies TMJ Total Joint Prosthesis in Treating Hemifacial Microsomia Patients Case Presentations Summary References Chapter 7: Definitive Reconstruction of Associated Maxillomandibular Deformities in Craniofacial Microsomia Introduction Growing and Skeletal Maturity Clinical Presentation Treatment Plan Treatment Conclusion References Chapter 8: Orthodontic Considerations in the Craniofacial Microsomia Patients Presentation and Diagnosis Comprehensive Orthodontic Management Attempt of Modification of Dentofacial Growth Using Orthopedic Treatment Approach Long-Term Stability of Orthodontic Treatment Adjunctive to Surgical Interventions References Chapter 9: Management of Hearing Loss in Patients with Treacher-Collins Syndrome and Hemifacial Microsomia Background Incidence of Outer Ear, Middle Ear, and Inner Ear Anomalies Treacher-Collins Syndrome Hemifacial Microsomia Incidence of Conductive Hearing Loss, Sensorineural Hearing Loss, and Mixed Hearing Loss Treacher-Collins Syndrome Hemifacial Microsomia Evaluation and Workup History and Examination Audiologic Assessment Additional Testing Treatment Conventional Hearing Aids Bone Conduction Amplification Options Implanted Devices Atresia Surgery References Chapter 10: Microtia Reconstruction in Patients with Craniofacial Microsomia Introduction Autologous Costal Cartilage Auricular Reconstruction First-Stage Auricular Reconstruction Using Autologous Costal Cartilage Preoperative Steps Auricular Reconstruction Site Preparation Costal Cartilage Harvest Creating the Cartilage Framework (See Fig. 10.8) Base Framework Helix, Antihelix, Antitragus, Intertragal Notch, and Tragus (Fig. 10.10b) Cartilage Graft Placement, Dressing, and Postoperative Care Second-Stage Auricular Reconstruction Using Autologous Costal Cartilage Preoperative Steps Banked Costal Cartilage and Skin Graft Harvest Incisions for Ear Elevation and TPF Flap Harvest to Cover the Postauricular Cartilage Graft and Helical Rim Porous Implant Ear Reconstruction (PIER) Preoperative Surgical Planning Implant Preparation Dissection of Microtia Remnant and Auricular Skin Fascial Flap Dissection (See Fig. 10.20) Covering the Implant with the Fascial Flap (See Fig. 10.21) Skin Coverage (See Fig. 10.22) Tragal Reconstruction Dressing and Postoperative Care Prosthetic Ear Reconstruction of the Pinna Consultation and Education Facial Prosthetic Rehabilitation: The Basics The Process of Prosthesis Fabrication Patient Records Design Casting Color Matching Fitting, Finishing, and Delivery Non-surgical Prosthetic Options Surgery for the Prosthetic Patient Pre-prosthetic Surgery Implant Placement and Osseointegration Preoperative Planning Implant Placement (First Stage) Abutment Placement Surgery (Second Stage) Combined Prosthetic Ear and Hearing Device Implant Placement Lifetime Maintenance Conclusion References Chapter 11: Correction of the Soft Tissue Deformities Associated with Craniofacial Microsomia: Facial Reanimation and Soft Tissue Grafting Techniques Manuscript Soft Tissue Reconstruction Flaps Free Flaps Flap Revisions Pedicled Flaps Grafts Structural Fat Grafting Dermal Fat Grafting Alloplastic Implants Facial Reanimation Upper Face Brow Endoscopic Brow Lift Direct Brow Lift Upper Eyelid Lid Loading Palpebral Springs Levator Lengthening Lower Eyelid Lateral Canthopexy Lateral Canthoplasty Lower Lid Cartilage Graft Tendon Sling Blink Midface Two-Stage Free Muscle Flap with Cross-Face Nerve Grafting One-Stage Free Muscle Flap with Masseteric Nerve Transfer Temporalis Transfer Lower Face Contralateral Lip Paralysis Ipsilateral Lip Depression Fascial Slings Digastric Muscle Transfer Cross-Face Nerve Grafting Mini-hypoglossal Nerve Transfer References Chapter 12: An Overview of Treatment and Recommendations for the Craniofacial Microsomia Patient Introduction Etiology and Pathogenesis Clinical Findings Diagnosis and Classification Systems Overall Management Maxillofacial Treatment Conclusions References Part II: Treacher Collins Syndrome TCS Chapter 13: Etiology and Anatomical Variation in Treacher Collins Syndrome A Personal Perspective on Treacher Collins Syndrome by the Author Introduction to Treacher Collins Syndrome Part I: Etiology of Treacher Collins Syndrome TCOF1: The Master Gene of Treacher Collins Syndrome POLR1C and POLR1D Cause Rare Forms of Treacher Collins Syndrome Part II: Anatomical Variation in Treacher Collins Syndrome Treacher Collins Syndrome Is a Neurocristopathy Anatomy of Treacher Collins Syndrome: Craniofacial Malformations and Airway Obstruction References Chapter 14: Initial Evaluation of a Patient with Treacher Collins Syndrome Background Clinical Features Prenatal Screening TCS in the Neonate and Infant Airway Feeding Ocular and Eyelid Anomalies Hearing Speech Genetics Counseling TCS in Childhood to Adulthood Facial Skeletal Assessment Midface, Maxillary, and Oral Findings Mandible Zygoma and Orbit Ocular Auricular Staging and Classifications Psychosocial Considerations Patient Involvement in Decision-Making Conclusion References Chapter 15: A Look at Breathing, Feeding, and Speech Problems in Patients with Treacher Collins Syndrome Breathing Tracheostomy Considerations for the SLP Airway Assessment Treatment Feeding Feeding Assessment Cultural Competence Treatment Goals for the SLP Speech Speech Assessment Treatments The Role of the Speech Language Pathologist in the Medical Setting vs. the School Setting Medical Setting School Setting Speech Therapy Focuses for VPI References Chapter 16: Associated Systemic Health Conditions Associated with Treacher Collins Syndrome Nutrition Head and Neck Neurologic Respiratory Cardiovascular Gastrointestinal Genitourinary Dental Psychiatric Conclusion Works Cited Chapter 17: Ophthalmologic Findings and Reconstruction of Soft Tissue Orbital Deformities: Coloboma and Eyelid Deformities Clinical Findings Orbital Features Ophthalmic Features Eyelid and Adnexal Features Treatment Management Overview Ophthalmologic Rehabilitation Eyelid Reconstruction Lateral Canthal Repositioning Ptosis and Other Periorbital Treatments Conclusion References Chapter 18: Correction of Orbital Zygomatic Deformities in the Treacher Collins Patient Introduction Anatomy Classifications of the Orbitozygomatic Regions Timing of Reconstruction Treatment Options Fat Grafting Autologous Bone Grafts Alloplastic Custom Implants Zygomatic Osteotomy Vascularized Flaps Parascapular Flaps Groin Flaps Distraction Osteogenesis Tissue Engineering Orbital Soft-Tissue Reconstruction Conclusion References Chapter 19: Management of the Mandibular Deformity in Growing Patients with Treacher Collins Syndrome Background Paradigms for Skeletal Reconstruction Management of Severe Clockwise Rotation in the Growing Child Management of Mild to Moderate Dysplasia in the Growing and Skeletally Mature Child Conclusion References Chapter 20: TMJ Total Joint Prosthesis in Treacher Collins Syndrome and Hemifacial Microsomia Introduction Background Reconstruction Considerations Timing of the Surgery Orthodontic Considerations and Virtual Surgical Planning Surgical Protocol Preparation Surgical Approaches for the TMJ Prosthesis Site Preparation for Prosthesis Insertion Mobilization of the Uninvolved Side Where Indicated Placing and Fixating the Prostheses Preventing Heterotopic Bone Formation Moving the Maxilla into Final Position Complications Nerve Injury Infection Allergic Reactions Heterotopic Bone Formation Secondary Soft Tissue Management Patient Expectations Summary References Chapter 21: Definitive Correction of Associated Maxillomandibular Deformities in Treacher Collins Syndrome Cephalometric Findings Stability of Orthognathic Surgery Surgery Protocol Summary References Chapter 22: Principles of Orthodontic Management of Treacher Collins Syndrome Introduction Orofacial Features Principles of Orthodontic Management References Chapter 23: Hearing Loss and Aural Rehabilitation in Patients with Treacher Collins Syndrome Introduction Otologic Manifestations of Treacher Collins Syndrome Outer Ear/Auricle Middle Ear Inner Ear Radiographic Imaging Hearing Loss in Treacher Collins Syndrome Age-Based Audiological Testing Auditory Rehabilitation Options Traditional Hearing Aid Amplification Bone-Anchored Hearing Amplification Atresiaplasty or Canalplasty Conclusion References Chapter 24: Reconstruction of the Ear Deformities Associated with Treacher Collins Syndrome Background Periauricular Anomalies Periauricular Accessory Appendages Preauricular Pits Auricular Deformities Microtia Prosthetics Implantable Reconstruction Autologous Rib Reconstruction Considerations on Timing and the Patient Perspective References Chapter 25: Rhinoplasty in Patients with Treacher Collins Syndrome Introduction Nasal Anatomy Rhinoplasty Implications of Nasal Dysfunction Conclusion References Chapter 26: An Overview of Treatment Recommendations for the Treacher Collins Syndrome Patient Introduction Etiology and Pathogenesis Clinical Features Functional Concerns Treatment Guidelines Prenatal Evaluation (Second-Third Trimester) Airway Speech/Nutrition Hearing/Microtia Orbito/Ocular Dental/Orthodontic Soft Tissue Concerns Maxillomandibular Treatment Nasal Deformity Conclusions References Index