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Craniosynostosis Diagnosis, Evaluation, and Management

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ISBN-10: 019511843X

ISBN-13: 9780195118438

Edition: 2nd 2000 (Revised)

Authors: M. Michael Cohen, Ruth E. MacLean

List price: $199.50
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Craniosynostosis, the early fusion of skull sutures, is a serious abnormality of infancy and childhood. Because there are many forms of the condition, both isolated and syndromatic, proper diagnosis is essential before treatment could be carried out. Not only has surgical treatment advanced in recent years, but basic knowledge of sutural and molecular biology of craniosynostosis syndromes has recently come to light. Because dramatic changes have occurred in the field, particularly in molecular biology, this new edition has been rewritten and new chapters have been added on the growth of sutures, craniofacial surgery, and epidemiology and clinical correlations. The molecular basis of…    
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Book details

List price: $199.50
Edition: 2nd
Copyright year: 2000
Publisher: Oxford University Press, Incorporated
Publication date: 4/6/2000
Binding: Hardcover
Pages: 480
Size: 8.58" wide x 11.18" long x 1.18" tall
Weight: 3.960

Contributors
Biological Background
Sutures and Craniosynostosis: A Comparative, Functional, and Evolutionary Perspective
Definition
In the Beginning: The First Sutures
Radiations
Function: Cause or Effect?
Sutures and the Rigid Skull
Generalizations
Sutural Biology
Suture Definitions
Suture Function
Suture Initiation and Form
Sutural Histology
Immunohistology, Histochemistry, Autoradiography, and Special Staining
Experimental Manipulation of Sutures
Sutural Interdigitation
Sutural Maturation and Closure
Suture Closure: Some Relationships
Secondary Cartilage
Embryology of the Skull
Stages of Embryonic Development
General Landmarks of Skull Development
Chondrocranium of the Embryo and Early Fetus
Ossification of the Skull
Vascularization of the Skull
Reflections of Dura Mater and Dural Venous Sinuses
Development of the Otic Capsule
Anterior Cranial and Facial Structures
Middle Cranial Structures
Posterior Cranial Structures
Normal Craniofacial Growth
Basic Skeletogenic Movements
Intramembranous and Endochondral Modes of Growth
Remodeling-Displacement Interrelationships
Growth of the Neurocranium
Ethmomaxillary Complex
Mandibular Growth
Theories of Craniofacial Growth Control
Notations and Growth Data
Two Developmental Points of Special Clinical Interest
Etiology and Pathogenesis
Sutural Pathology
Definitions
Histopathology
Etiology
Secondary Synostosis
Special Topics
Other Studies
Animal Studies
TGF[beta] and Sutural Biology
TGF[beta] Superfamily
TGF[beta]
Tertiary Structure
Latent TGF[beta] and Latent TGF[beta] Binding Protein
Receptors
Intracellular Signaling
The Osteoblast and TGF[beta], 73
TGF[beta] Mouse Models
TGF[beta] and Cranial Sutures
Fibroblast Growth Factor Receptor Mutations
FGF/FGFR Biology
Fibroblast Growth Factor Receptors (FGFRs)
Fibroblast Growth Factors (FGFs)
Heparan Sulfate Proteoglycans (HSPGs)
Intracellular Signaling
Tertiary Structure
Animal Models and Fgf Signaling
FGFR Mutations and Craniosynostosis Syndromes
Apert Syndrome
Pfeiffer Syndrome
Crouzon Syndrome
Jackson-Weiss Syndrome
Beare-Stevenson Cutis Gyrata Syndrome
Nonclassifiable FGFR2 Disorders with Craniosynostosis
FGFR3-Associated Coronal Synostosis Syndrome (Muenke Craniosynostosis)
Crouzonodermoskeletal Syndrome
Thanatophoric Dysplasia
Ligand-Independent Receptor Activation and Enhanced Receptor Occupancy
Some Generalizations and Some Conclusions
TWIST and MSX2 Mutations
TWIST Mutations and the Saethre-Chotzen Syndrome
Homeobox Gene MSX2 Mutation and Boston-Type Craniosynostosis
Topical Subjects in Craniosynostosis
History, Terminology, and Classification of Craniosynostosis
Historical Perspectives
Anatomic Nomenclature
Syndromic Nomenclature
Classification
Syndromic Classification
Epidemiology of Craniosynostosis
Race
General Birth Prevalence
Epidemiology of Simple Craniosynostosis
Birth Prevalence of Apert and Crouzon Syndromes
Relative Clinical Frequencies of Different Types of Craniosynostosis
The Problem of Epidemics of Craniosynostosis and Misdiagnosis
Twins and Simple Craniosynostosis
Associated Anomalies
Anatomic, Genetic, Nosologic, Diagnostic, and Psychosocial Considerations
General Types of Craniosynostosis
Anatomic and Genetic Perspectives on Craniosynostosis
Genetics of Isolated Craniosynostosis
Nomenclature: The Possessive Case Should Not be Used
Percentage of Mutations Identified for a Given Syndrome
Nomenclature: Taking the Molecular Perspective into Account
Sutures, Suture Systems, and Craniosynostosis
Sagittal Synostosis
Coronal Synostosis
Metopic Synostosis
Brachycephaly, Dolichocephaly, and Trigonocephaly Without Craniosynostosis
Plagiocephaly
Synostotic Anterior Plagiocephaly (Unilateral Coronal Synostosis) and Deformational Anterior Plagiocephaly
Synostotic Posterior Plagiocephaly (Unilateral Lambdoid Synostosis) and Deformational Posterior Plagiocephaly
Differentiation of Various Types of Plagiocephaly
Delayed Synostosis
Complex Synostosis
Craniofacial Dyssynostosis
Craniotelencephalic Dysplasia
Hydrocephalus and Craniosynostosis
Mental Deficiency and Craniosynostosis
Acrocephalosyndactyly vs. Acrocephalopolysyndactyly: A Pseudo-distinction
Syndrome Delineation
Diagnosis of Craniosynostosis
Genetic/Pediatric Assessment
Psychosocial Considerations
Radiographic and Other Imaging Studies
Radiologic Evaluation of Craniosynostosis
Diagnosis
Diagnostic Criteria
Characteristic Findings
Premature Craniosynostosis
Imaging Modalities
Skull Radiography--Cephalometry
Narrowed or Obliterated Sutures
Computed Tomography
Three-Dimensional Computed Tomography
Radiation Dose
Digitization of the Face
Scintigraphy--Bone Scanning, SPECT
Magnetic Resonance Imaging
Ultrasound
Volumetry
Intracranial Pressure and Volume
Summary
Postnatal Growth and Development of the Craniofacial Complex in Premature Craniosynostosis
Roentgencephalometry
Normal Craniofacial Growth
Craniofacial Growth in Premature Craniosynostosis
Discussion
Neurologic and Ophthalmologic Assessment
Neurologic Aspects of Craniosynostosis
Mental Handicap
Increased Intracranial Pressure
Hydrocephalus
Intracranial Volume: True Megalencephaly and Pseudomegalencephaly
Malformations
Cranial Nerve Abnormalities
Hypothalamic-Pituitary Disorders
Epilepsy
Suggested Neurologic Investigation and Follow-up for Craniostenosis Patients
Ocular Findings in Craniosynostosis
Ophthalmologic Examination
General Considerations--Primary and Secondary Pathology: Causes of Visual Loss
Complications of Abnormal Position of the Globe
Pathology of the Lids, Palpebral Fissures, and Nasolacrimal Apparatus
Ocular Motility Disturbances (Strabismus)
Refractive Errors
Intrinsic Ocular Pathology
Effects of Major Reconstructive Surgery on Ocular Structures
Speech and Hearing
Speech and Language Disorders in Syndromes of Craniosynostosis
Components of Communication Affected in Syndromes of Craniosynostosis
Resonance Disorders in Syndromes of Craniosynostosis
Articulation Disorders
Structural Anomalies Leading to Articulatory Impairment
Voice Disorders
Language
Summary
Otologic Manifestations of Craniosynostosis Syndromes
Apert Syndrome
Crouzon Syndrome
Pfeiffer Syndrome
Saethre-Chotzen Syndrome
Cloverleaf Skull
Other Syndromes
Surgical Treatment
Neurosurgical Treatment of Craniosynostosis
A History of Surgery for Craniosynostosis
Introduction to Neurosurgical Treatment
The Pathogenesis of Craniosynostosis
Growth of the Skull Following Single-Suture Closure
Craniofacial Surgery in Syndromic Craniosynostosis
Classification of Craniofacial Syndromes from a Topographic and Anatomic Viewpoint
Basic Anatomic Deformities that Craniofacial Surgery Deals with According to Five Different Levels in the Craniofacial Framework
General Principles of Craniofacial Surgery
Surgical Methods for Syndromes with Craniosynostosis
General Indications for Craniofacial Surgery
Relationship of Craniofacial Surgery to Other Specialties in the Head and Neck Region
Afterword
Craniosynostosis and the Craniofacial Dysostosis Syndromes: Current Surgical Management
Historical Perspective
Aesthetic Considerations
Quantitative Assessment
Classification System
Craniofacial Dysostosis Syndromes
Conclusions
Craniofacial Surgery Research for Craniosynostosis
Questions Raised at the NIDR Craniofacial Conference in 1973
Assumptions About Craniofacial Biology Relevant to Craniosynostosis
Assumptions About Craniofacial Surgery for Craniosynostosis
Data on Craniofacial Surgery for Craniosynostosis
Conclusions
Syndromes with Craniosynostosis
Cloverleaf Skull
Classification
Craniosynostosis
Facial Features
Radiographic Findings
Central Nervous System
Other Findings
Prognosis
Prenatal Diagnosis
FGFR3-Associated Coronal Synostosis Syndrome (Muenke Craniosynostosis)
Designations
Molecular Findings
Genetics
Craniofacial Features
Performance
Other Clinical Findings
Radiographic Findings
Diagnosis
Prenatal Diagnosis
Apert Syndrome
History
Birth Prevalence
Genetics
Growth and Development
Central Nervous System
Visceral Anomalies
Calvarial Development
Calvarial Terminology in Apert Syndrome
Craniofacial Features
Cephalometric Findings
Airway Compromise
Hearing Deficit
Cervical Vertebral Anomalies
Hands and Feet
Skeletal Abnormalities
Skin
Unusual Findings
Differential Diagnosis
Pfeiffer Syndrome
Genetics
Clinical Subtypes
Central Nervous System
Craniofacial Features
Hands and Feet
Other Findings
Clinical Research Directions
Differential Diagnosis
Prenatal Diagnosis
Crouzon Syndrome
Birth Prevalence
Genetics
Abnormalities of the Central Nervous System
Craniofacial Features
Cephalometric Studies
Ocular Features
Trachea
Oral Manifestations
Other Findings
Limbs
Differential Diagnosis
Thanatophoric Dysplasia
Epidemiology
Nosology
Studies of Cartilage and Bone
Genetics
Natural History and Growth Parameters
Neuropathology
Craniofacial Features
Pathogenesis
Miscellaneous Abnormalities
Differential Diagnosis
Recurrence Risk and Prenatal Diagnosis
Saethre-Chotzen Syndrome
Genetics
Craniofacial Features
Performance
Hands and Feet
Other Findings
Differential Diagnosis
Diagnosis
Carpenter Syndrome
Growth
Performance
Cardiovascular Anomalies
Craniofacial Features
Hands and Feet
Other Abnormalities
Differential Diagnosis
Craniofrontonasal Syndrome
Etiology
Review of Cases
Differential Diagnosis
Other Syndromes With Craniosynostosis
Detailed Description of Syndromes
Problem Syndromes, Spurious Entities, and Craniosynostosis
Index