Craniosynostosis : diagnosis, evaluation, and management / edited by M. Michael Cohen, Jr., Ruth E. MacLean.

Format:

Book

Contributor:

Cohen, M. Michael (Meyer Michael), 1937-

MacLean, Ruth E.

Language:

English

Subjects (All):

Craniosynostoses.

Craniosynostoses--Surgery.

Medical Subjects:

Craniosynostoses.

Physical Description:

xx, 454 pages : illustrations ; 29 cm

Edition:

Second edition.

Place of Publication:

New York : Oxford University Press, 2000.

Summary:

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 craniosynostosis, with emphasis on fibroblast growth receptors, and recent research on postnatal growth and the craniofacial complex, will be discussed in detail. Many new syndromes have been delineated the established conditions have been redefined.

Contents:

Part I Biological Background

1. Sutures and Craniosynostosis: A Comparative, Functional, and Evolutionary Perspective / Susan W. Herring 3

In the Beginning: The First Sutures 3

Radiations 4

Function: Cause or Effect? 7

Sutures and the Rigid Skull 8

2. Sutural Biology / M. Michael Cohen, Jr. 11

Suture Definitions 11

Suture Function 11

Suture Initiation and Form 12

Sutural Histology 14

Immunohistology, Histochemistry, Autoradiography, and Special Staining 14

Experimental Manipulation of Sutures 16

Sutural Interdigitation 17

Sutural Maturation and Closure 18

Suture Closure: Some Relationships 20

Secondary Cartilage 20

3. Embryology of the Skull / Ronald J. Lemire 24

Stages of Embryonic Development 24

General Landmarks of Skull Development 24

Chondrocranium of the Embryo and Early Fetus 25

Ossification of the Skull 25

Vascularization of the Skull 26

Reflections of Dura Mater and Dural Venous Sinuses 26

Development of the Otic Capsule 26

Anterior Cranial and Facial Structures 28

Middle Cranial Structures 30

Posterior Cranial Structures 31

4. Normal Craniofacial Growth / Donald H. Enlow 35

Basic Skeletogenic Movements 35

Intramembranous and Endochondral Modes of Growth 36

Remodeling-Displacement Interrelationships 36

Growth of the Neurocranium 37

Ethmomaxillary Complex 39

Mandibular Growth 42

Theories of Craniofacial Growth Control 42

Notations and Growth Data 46

Two Developmental Points of Special Clinical Interest 47

Part II Etiology and Pathogenesis

5. Sutural Pathology / M. Michael Cohen, Jr. 51

Histopathology 51

Etiology 53

Secondary Synostosis 54

Special Topics 59

Other Studies 61

Animal Studies 62

6. TGF[beta] and Sutural Biology / M. Michael Cohen, Jr. 69

TGF[beta] Superfamily 69

TGF[beta] 69

Tertiary Structure 70

Latent TGF[beta] and Latent TGF[beta] Binding Protein 71

Receptors 71

Intracellular Signaling 73

The Osteoblast and TGF[beta], 73

TGF[beta] Mouse Models 73

TGF[beta] and Cranial Sutures 74

7. Fibroblast Growth Factor Receptor Mutations / M. Michael Cohen, Jr. 77

FGF/FGFR Biology 77

Fibroblast Growth Factor Receptors (FGFRs) 77

Fibroblast Growth Factors (FGFs) 79

Heparan Sulfate Proteoglycans (HSPGs) 80

Intracellular Signaling 80

Tertiary Structure 82

Animal Models and Fgf Signaling 83

FGFR Mutations and Craniosynostosis Syndromes 83

Apert Syndrome 83

Pfeiffer Syndrome 85

Crouzon Syndrome 86

Jackson-Weiss Syndrome 86

Beare-Stevenson Cutis Gyrata Syndrome 86

Nonclassifiable FGFR2 Disorders with Craniosynostosis 87

FGFR3-Associated Coronal Synostosis Syndrome (Muenke Craniosynostosis) 87

Crouzonodermoskeletal Syndrome 87

Thanatophoric Dysplasia 87

Ligand-Independent Receptor Activation and Enhanced Receptor Occupancy 88

Some Generalizations and Some Conclusions 89

8. TWIST and MSX2 Mutations / M. Michael Cohen, Jr. 95

TWIST Mutations and the Saethre-Chotzen Syndrome 95

Homeobox Gene MSX2 Mutation and Boston-Type Craniosynostosis 97

Part III Topical Subjects in Craniosynostosis

9. History, Terminology, and Classification of Craniosynostosis / M. Michael Cohen, Jr. 103

Historical Perspectives 103

Anatomic Nomenclature 104

Syndromic Nomenclature 105

Classification 105

Syndromic Classification 107

10. Epidemiology of Craniosynostosis / M. Michael Cohen, Jr. 112

Race 112

General Birth Prevalence 112

Epidemiology of Simple Craniosynostosis 112

Birth Prevalence of Apert and Crouzon Syndromes 112

Relative Clinical Frequencies of Different Types of Craniosynostosis 114

The Problem of Epidemics of Craniosynostosis and Misdiagnosis 115

Twins and Simple Craniosynostosis 116

Associated Anomalies 117

11. Anatomic, Genetic, Nosologic, Diagnostic, and Psychosocial Considerations / M. Michael Cohen, Jr., Ruth E. MacLean 119

General Types of Craniosynostosis 119

Anatomic and Genetic Perspectives on Craniosynostosis 119

Genetics of Isolated Craniosynostosis 119

Nomenclature: The Possessive Case Should Not be Used 120

Percentage of Mutations Identified for a Given Syndrome 120

Nomenclature: Taking the Molecular Perspective into Account 121

Sutures, Suture Systems, and Craniosynostosis 122

Sagittal Synostosis 123

Coronal Synostosis 123

Metopic Synostosis 124

Brachycephaly, Dolichocephaly, and Trigonocephaly Without Craniosynostosis 124

Plagiocephaly 124

Synostotic Anterior Plagiocephaly (Unilateral Coronal Synostosis) and Deformational Anterior Plagiocephaly 125

Synostotic Posterior Plagiocephaly (Unilateral Lambdoid Synostosis) and Deformational Posterior Plagiocephaly 126

Differentiation of Various Types of Plagiocephaly 128

Delayed Synostosis 129

Complex Synostosis 129

Craniofacial Dyssynostosis 130

Craniotelencephalic Dysplasia 131

Hydrocephalus and Craniosynostosis 131

Mental Deficiency and Craniosynostosis 131

Acrocephalosyndactyly vs. Acrocephalopolysyndactyly: A Pseudo-distinction 132

Syndrome Delineation 132

Diagnosis of Craniosynostosis 136

Genetic/Pediatric Assessment 137

Psychosocial Considerations 138

Part IV Radiographic and Other Imaging Studies

12. Radiologic Evaluation of Craniosynostosis / Michael W. Vannier 147

Diagnosis 147

Diagnostic Criteria 148

Characteristic Findings 148

Premature Craniosynostosis 149

Imaging Modalities 152

Skull Radiography

Cephalometry 152

Narrowed or Obliterated Sutures 153

Computed Tomography 153

Three-Dimensional Computed Tomography 154

Radiation Dose 154

Digitization of the Face 154

Scintigraphy

Bone Scanning, SPECT 154

Magnetic Resonance Imaging 155

Ultrasound 155

Volumetry 155

Intracranial Pressure and Volume 156

13. Postnatal Growth and Development of the Craniofacial Complex in Premature Craniosynostosis / Sven Kreiborg 158

Roentgencephalometry 159

Normal Craniofacial Growth 159

Craniofacial Growth in Premature Craniosynostosis 160

Part V Neurologic and Ophthalmologic Assessment

14. Neurologic Aspects of Craniosynostosis / Peter R. Camfield, Carol S. Camfield, M. Michael Cohen, Jr. 177

Mental Handicap 177

Increased Intracranial Pressure 177

Hydrocephalus 179

Intracranial Volume: True Megalencephaly and Pseudomegalencephaly 179

Malformations 180

Cranial Nerve Abnormalities 180

Hypothalamic-Pituitary Disorders 181

Epilepsy 181

Suggested Neurologic Investigation and Follow-up for Craniostenosis Patients 181

15. Ocular Findings in Craniosynostosis / Marilyn T. Miller 184

Ophthalmologic Examination 184

General Considerations

Primary and Secondary Pathology: Causes of Visual Loss 184

Complications of Abnormal Position of the Globe 186

Pathology of the Lids, Palpebral Fissures, and Nasolacrimal Apparatus 187

Ocular Motility Disturbances (Strabismus) 188

Refractive Errors 191

Intrinsic Ocular Pathology 192

Effects of Major Reconstructive Surgery on Ocular Structures 192

Part VI Speech and Hearing

16. Speech and Language Disorders in Syndromes of Craniosynostosis / Robert J. Shprintzen 197

Components of Communication Affected in Syndromes of Craniosynostosis 197

Resonance Disorders in Syndromes of Craniosynostosis 197

Articulation Disorders 200

Structural Anomalies Leading to Articulatory Impairment 200

Voice Disorders 201

Language 202

17. Otologic Manifestations of Craniosynostosis Syndromes / R. Lucian Sulica, Kenneth M. Grundfast 204

Apert Syndrome 204

Crouzon Syndrome 204

Pfeiffer Syndrome 204

Saethre-Chotzen Syndrome 204

Cloverleaf Skull 205

Other Syndromes 205

Part VII Surgical Treatment

18. Neurosurgical Treatment of Craniosynostosis / John A. Persing, John A.

Jane 209

A History of Surgery for Craniosynostosis 209

Introduction to Neurosurgical Treatment 209

The Pathogenesis of Craniosynostosis 210

Growth of the Skull Following Single-Suture Closure 211

19. Craniofacial Surgery in Syndromic Craniosynostosis / Paul Tessier 228

Classification of Craniofacial Syndromes from a Topographic and Anatomic Viewpoint 230

Basic Anatomic Deformities that Craniofacial Surgery Deals with According to Five Different Levels in the Craniofacial Framework 238

General Principles of Craniofacial Surgery 238

Surgical Methods for Syndromes with Craniosynostosis 240

General Indications for Craniofacial Surgery 249

Relationship of Craniofacial Surgery to Other Specialties in the Head and Neck Region 251

20. Craniosynostosis and the Craniofacial Dysostosis Syndromes: Current Surgical Management / Jeffrey C. Posnick 269

Historical Perspective 269

Aesthetic Considerations 269

Quantitative Assessment 270

Classification System 270

Craniofacial Dysostosis Syndromes 277

21. Craniofacial Surgery Research for Craniosynostosis / Jeffrey L. Marsh 292

Questions Raised at the NIDR Craniofacial Conference in 1973 292

Assumptions About Craniofacial Biology Relevant to Craniosynostosis 293

Assumptions About Craniofacial Surgery for Craniosynostosis 295

Data on Craniofacial Surgery for Craniosynostosis 296

Part VIII Syndromes with Craniosynostosis

22. Cloverleaf Skull / M. Michael Cohen, Jr. 309

Classification 309

Craniosynostosis 309

Facial Features 309

Radiographic Findings 309

Central Nervous System 310

Prognosis 310

Prenatal Diagnosis 311

23. FGFR3-Associated Coronal Synostosis Syndrome (Muenke Craniosynostosis) / M. Michael Cohen, Jr. 313

Designations 313

Molecular Findings 314

Genetics 314

Craniofacial Features 314

Performance 314

Other Clinical Findings 314

Radiographic Findings 315

Diagnosis 315

Prenatal Diagnosis 315

24. Apert Syndrome / M. Michael Cohen, Jr. 316

History 316

Birth Prevalence 316

Genetics 317

Growth and Development 318

Central Nervous System 319

Visceral Anomalies 324

Calvarial Development 324

Calvarial Terminology in Apert Syndrome 325

Craniofacial Features 327

Cephalometric Findings 333

Airway Compromise 334

Hearing Deficit 334

Cervical Vertebral Anomalies 335

Hands and Feet 335

Skeletal Abnormalities 343

Skin 347

Unusual Findings 348

Differential Diagnosis 349

25. Pfeiffer Syndrome / M. Michael Cohen, Jr. 354

Genetics 354

Clinical Subtypes 354

Central Nervous System 355

Craniofacial Features 356

Hands and Feet 356

Other Findings 356

Clinical Research Directions 357

Differential Diagnosis 357

Prenatal Diagnosis 358

26. Crouzon Syndrome / M. Michael Cohen, Jr. 361

Birth Prevalence 361

Genetics 361

Abnormalities of the Central Nervous System 361

Craniofacial Features 362

Cephalometric Studies 363

Ocular Features 363

Trachea 363

Oral Manifestations 364

Limbs 364

Differential Diagnosis 364

27. Thanatophoric Dysplasia / M. Michael Cohen, Jr. 366

Epidemiology 366

Nosology 366

Studies of Cartilage and Bone 366

Genetics 367

Natural History and Growth Parameters 368

Neuropathology 368

Craniofacial Features 369

Pathogenesis 369

Miscellaneous Abnormalities 370

Differential Diagnosis 371

Recurrence Risk and Prenatal Diagnosis 371

28. Saethre-Chotzen Syndrome / M. Michael Cohen, Jr. 374

Genetics 374

Craniofacial Features 374

Performance 375

Hands and Feet 375

Differential Diagnosis 375

Diagnosis 376

29. Carpenter Syndrome / M. Michael Cohen, Jr. 377

Growth 377

Performance 377

Cardiovascular Anomalies 377

Craniofacial Features 377

Hands and Feet 377

Other Abnormalities 378

Differential Diagnosis 379

30. Craniofrontonasal Syndrome / M. Michael Cohen, Jr. 380

Etiology 380

Differential Diagnosis 381

31. Other Syndromes With Craniosynostosis / M. Michael Cohen, Jr. 385

Detailed Description of Syndromes 385

Problem Syndromes, Spurious Entities, and Craniosynostosis 433.

Notes:

Includes bibliographical references and index.

ISBN:

019511843X

OCLC:

41528658