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

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