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