Craniosynostosis diagnosis, evaluation, and management
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| Sprache: | English |
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Oxford Univ. Press
2000
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| 245 | 1 | 0 | |a Craniosynostosis |b diagnosis, evaluation, and management |c ed. by M. Michael Cohen ... |
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Datensatz im Suchindex
| _version_ | 1819724692325400576 |
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| adam_text | Contc
Contributors, xix
Part I Biological Background
1. Sutures and Craniosynostosis: A Comparative,
Functional, and Evolutionary Perspective, 3
Susan W. Herring
Definition, 3
In the Beginning: The First Sutures, 3
Radiations, 4
Function: Cause or Effect?, 7
Sutures and the Rigid Skull, 8
Generalizations, 8
2. Sutural Biology, 11
M. Michael Cohen, Jr.
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, 24
Ronald J. Lemire
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, 35
Donald H. Enlow
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
mts
Part II Etiology and Pathogenesis
5. Sutural Pathology, 51
M. Michael Cohen, Jr.
Definitions, 51
Histopathology, 51
Etiology, 53
Secondary Synostosis, 54
Special Topics, 59
Other Studies, 61
Animal Studies, 62
6. TGF(3 and Sutural Biology, 69
M. Michael Cohen, Jr.
TGFp Superfamily, 69
TGFp, 69
Tertiary Structure, 70
Latent TGFp and Latent TGFp Binding Protein, 71
Receptors, 71
Intracellular Signaling, 73
The Osteoblast and TGFp, 73
TGF|3 Mouse Models, 73
TGFp and Cranial Sutures, 74
7. Fibroblast Growth Factor Receptor Mutations, 77
M. Michael Cohen, Jr.
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, 95
M. Michael Cohen, Jr.
TWIST Mutations and the Saethre Chotzen Syndrome, 95
Homeobox Gene MSX2 Mutation and Boston Type
Craniosynostosis, 97
xvi Coni
Part III Topical Subjects in Craniosynostosis
9. History, Terminology, and Classification
of Craniosynostosis, 103
M. Michael Cohen, Jr.
Historical Perspectives, 103
Anatomic Nomenclature, 104
Syndromic Nomenclature, 105
Classification, 105
Syndromic Classification, 107
10. Epidemiology of Craniosynostosis, 112
M. Michael Cohen, Jr.
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, 119
M. Michael Cohen, Jr. and Ruth E. MacLean
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, 147
Michael W. Vannier
Diagnosis, 147
Diagnostic Criteria, 148
tents
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
Summary, 156
13. Postnatal Growth and Development of the Craniofacial
Complex in Premature Craniosynostosis, 158
Sven Kreiborg
Roentgencephalometry, 159
Normal Craniofacial Growth, 159
Craniofacial Growth in Premature Craniosynostosis, 160
Discussion, 167
Part V Neurologic and Ophthalmologic
Assessment
14. Neurologic Aspects of Craniosynostosis, 177
Peter R. Camfield, Carol S. Camfield,
and M. Michael Cohen, Jr.
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, 184
Marilyn T. Miller
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, 197
Robert J. Shprintzen
Components of Communication Affected in Syndromes
of Craniosynostosis, 197
Com
Resonance Disorders in Syndromes of Craniosynostosis, 197
Articulation Disorders, 200
Structural Anomalies Leading to Articulatory
Impairment, 200
Voice Disorders, 201
Language, 202
Summary, 202
17. Otologic Manifestations of Craniosynostosis
Syndromes, 204
R. Lucian Sulica and Kenneth M. Grundfast
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, 209
John A. Persing and John A. Jane
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. Craniofadal Surgery in Syndromic
Craniosynostosis, 228
Paul Tessier
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
Afterword by S. Anthony Wolfe, 256
20. Craniosynostosis and the Craniofacial Dysostosis
Syndromes: Current Surgical Management, 269
Jeffrey C. Posnick
Historical Perspective, 269
Aesthetic Considerations, 269
Quantitative Assessment, 270
Classification System, 270
Craniofacial Dysostosis Syndromes, 277
Conclusions, 288
21. Craniofacial Surgery Research for
Craniosynostosis, 292
Jeffrey L. Marsh
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
Conclusions, 303
tents x
Part VIII Syndromes with Craniosynostosis
22. Cloverleaf Skull, 309
M Michael Cohen, Jr.
Classification, 309
Craniosynostosis, 309
Facial Features, 309
Radiographic Findings, 309
Central Nervous System, 310
Other Findings, 310
Prognosis, 310
Prenatal Diagnosis, 311
23. FGFR3 Associated Coronal Synostosis Syndrome
(Muenke Craniosynostosis), 313
M. Michael Cohen, Jr.
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, 316
M. Michael Cohen, Jr.
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, 354
M. Michael Cohen. Jr.
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, 361
M. Michael Cohen, Jr.
Birth Prevalence, 361
Genetics, 361
Abnormalities of the Central Nervous System. 361
xviii
Craniofacial Features, 362
Cephalometric Studies, 363
Ocular Features, 363
Trachea, 363
Oral Manifestations, 364
Other Findings, 364
Limbs, 364
Differential Diagnosis, 364
27. Thanatophoric Dysplasia, 366
M. Michael Cohen, Jr.
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, 374
M. Michael Cohen, Jr.
Genetics, 374
Craniofacial Features, 374
Performance, 375
Contents
Hands and Feet, 375
Other Findings, 375
Differential Diagnosis, 375
Diagnosis, 376
29. Carpenter Syndrome, 377
M. Michael Cohen, Jr.
Growth, 377
Performance, 377
Cardiovascular Anomalies, 377
Craniofacial Features, 377
Hands and Feet, 377
Other Abnormalities, 378
Differential Diagnosis, 379
30. Craniofrontonasal Syndrome, 380
M. Michael Cohen, Jr.
Etiology, 380
Review of Cases, 380
Differential Diagnosis, 381
31. Other Syndromes With Craniosynostosis, 385
M. Michael Cohen, Jr.
Detailed Description of Syndromes, 385
Problem Syndromes, Spurious Entities, and
Craniosynostosis, 433
Index, 441
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| id | DE-604.BV013237697 |
| illustrated | Illustrated |
| indexdate | 2024-12-23T15:24:07Z |
| institution | BVB |
| isbn | 019511843X |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-009020583 |
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| physical | XX, 454 S. Ill., graph. Darst. |
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| spellingShingle | Craniosynostosis diagnosis, evaluation, and management Craniosynostoses Craniosynostoses Surgery Kraniostenose (DE-588)4165496-1 gnd |
| subject_GND | (DE-588)4165496-1 (DE-588)4143413-4 |
| title | Craniosynostosis diagnosis, evaluation, and management |
| title_auth | Craniosynostosis diagnosis, evaluation, and management |
| title_exact_search | Craniosynostosis diagnosis, evaluation, and management |
| title_full | Craniosynostosis diagnosis, evaluation, and management ed. by M. Michael Cohen ... |
| title_fullStr | Craniosynostosis diagnosis, evaluation, and management ed. by M. Michael Cohen ... |
| title_full_unstemmed | Craniosynostosis diagnosis, evaluation, and management ed. by M. Michael Cohen ... |
| title_short | Craniosynostosis |
| title_sort | craniosynostosis diagnosis evaluation and management |
| title_sub | diagnosis, evaluation, and management |
| topic | Craniosynostoses Craniosynostoses Surgery Kraniostenose (DE-588)4165496-1 gnd |
| topic_facet | Craniosynostoses Craniosynostoses Surgery Kraniostenose Aufsatzsammlung |
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