Understanding Craniofacial Anomalies: The Etiopathogenesis of Craniosynostoses and Facial Clefting

Author: Mark P. Mooney
Published: April 2002
Publisher: Wiley, John & Sons, Incorporated
ISBN: 047138724X
Hardcover Book
Number of Pages: 583

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Presents cutting-edge basic science that is accessible to laboratory scientists as well as clinicians.
* Provides an integrative review of the various classification systems through standardized nomenclature and consistent terminology.
* Reflects the recent explosion of growth in studying genetic and epigenetic etiologies of syndromes.
* Speculates future research directions of study and potential applications at both the molecular and clinical levels. This text presents an up-to-date guide to the etiology and pathogenesis of two of the most common craniofacial birth defects (craniosynostosis and facial clefting) from evolutionary, molecular, genetic, embryonic, growth and development, and dysmorphic perspectives. The 22 chapters, written by authorities in the field, discuss classification and terminology, embryogenesis and etiology, animal modeling, growth disturbances related to cranial vault and cranial base dysmorphology and midfacial and mandibular dysmorphology, molecular biology studies, and future directions. Illustrated with b&w photographs and images. Appropriate for undergraduate, graduate, preprofessional, and professional students, and clinicians. Edited by Mooney and Siegel, both of the Cleft Palate-Craniofacial Center, U. of Pittsburgh.

Table of Contents
Foreword xvii
Preface xix
Contributors xxi
I Classification and Terminology 1
1 Overview and Introduction 3
1.1. Introduction 3
1.2. Normal Craniofacial Morphology 3
1.3. Craniofacial Dysmorphology 5
1.4. Conclusions 7
2 Terminology and Classification of Craniosynostosis 11
2.1. Introduction 11
2.2. Historical Perspective 11
2.3. Conclusions 14
3 Terminology and Classification of Facial Clefting 17
3.1. Introduction 17
3.2. Historical Classifications of Facial Clefts 17
3.3. Do These Classifications Really Serve a Purpose? 19
3.4. Back to Semantics 21
3.5. Is There a Useful System? 24
3.6. Conclusions 27
II Embryogenesis and Etiology 29
4 Craniofacial Embryogenesis: Normal Developmental Mechanisms 31
4.1. Introduction 31
4.2. Early Development 32
4.3. Neural Crest Tissue 35
4.4. Craniofacial Development 41
5 Craniofacial Embryogenesis: Abnormal Developmental Mechanisms 61
5.1. Introduction 61
5.2. Some Relevant Aspects of Craniofacial Evolution and Development 62
5.3. The Holoprosencephalies and Germ Layer Formation 65
5.4. Otocephalies 69
5.5. Syndromes with Major Crest Cell Involvement 72
5.6. Development Alterations in Facial Clefting with Emphasis on their Multifactorial Etiology 86
5.7. Abnormal Developmental Mechanisms in the Formation of Tissues and Organs 102
5.8. Concluding Remarks 104
6 Genetic Etiologies of Craniosynostosis 125
6.1. Introduction 125
6.2. Genetic Epidemiology of Craniosynostoses 125
6.3. Phenotypes and Genotypes of Craniosynostoses 126
6.4. Fibroblast Growth Factor Receptors 126
6.5. Crouzon Syndrome and FGFR2 Extracellular Domain Mutations 128
6.6. Apert Syndrome and FGFR2 Ser252Trp and Pro253Arg Mutations 129
6.7. Pfeiffer Syndrome and FGFR2 Extracellular Mutations and Paralogous Mutations in FGFR1 and FGFR3 133
6.8. Jackson-Weiss Syndrome and FGFR2 Extracellular Domain Mutations 134
6.9. Beare-Stevenson Cutis Gyrata Syndrome and FGFR2 Juxta- or Transmembrane Domain Mutations 135
6.10. Crouzon Syndrome with Acanthosis Nigricans or Crouzonodermoskeletal Syndrome and FGFR3 Ala391Glu Transmembrane Domain Mutation 135
6.11. FGFR3 Pro250Arg-Associated Coronal Synostosis Syndrome or Muenke Syndrome or Craniosynostosis Adelaide Type 136
6.12. Pathophysiology of FGFR Mutations in Craniosynostosis 136
6.13. Saethre Chotzen Syndrome and Robinow-Sorauf Syndrome and TWIST Mutations 137
6.14. Craniosynostosis, Boston Type, and MSX2 Pro148His Mutation 139
6.15. Integration of Developmental, Clinical, and Molecular Genetics of Craniosynostoses 139
7 Genetic Etiologies of Facial Clefting 147
7.1. Introduction 147
7.2. Genetic Etiologies of Syndromic Orofacial Clefts 147
7.3. Genetic Etiologies of Nonsyndromic Orofacial Clefts 151
8 Environmental Etiologies of Orofacial Clefting and Craniosynostosis 163
8.1. Introduction 163
8.2. Nomenclature 164
8.3. Environmental Etiologies of Orofacial Clefts 165
8.4. Maternal Factors 182
8.5. Intrauterine Factors 184
8.6. Environmental Etiologies of Craniosynostosis 186
8.7. Summary 188
III Animal Modeling 207
9 Animal Models of Craniosynostosis: Experimental, Congenital, and Transgenic Models 209
9.1. Introduction: The General Utility of Animal Models for Craniofacial Biology 209
9.2. Specific Animal Models of Cranial Vault Growth and Craniosynostosis 213
9.3. Conclusion 236
10 Animal Models of Facial Clefting: Experimental, Congenital, and Transgenic 251
10.1. Introduction 251
10.2. Midline Craniofacial Development 252
10.3. Midfacial and Palatal Development 255
10.4. Primary Palate Development 256
10.5. Secondary Palate Development 261
10.6. Transgenic Animal Models for Facial Clefting 264
IV Cranial Vault and Cranial Base Dysmorphology and Growth Disturbances 273
11 Evolutionary Changes in the Cranial Vault and Base: Establishing the Primate Form 275
11.1. Introduction: Evolutionary Correlates of Human Neuro- and Chondrocranial Morphology 275
11.2. Phylogenetic Changes in Neuro- and Chondrocranial Morphology 278
11.3. Phylogenetic Changes in the Nervous System and its Effects on Neuro- and Chondrocranial Morphology 281
11.4. Skull Base Synchondroses and Comparative Growth 285
11.5. Conclusions 286
12 Cranial Base Dysmorphology and Growth in the Craniosynostoses 295
12.1. Historical Perspective 295
12.2. The Etiopathogenesis of Cranial Base Abnormalities 296
12.3. Cranial Base Growth Patterns in Craniosynostosis 300
12.4. Conclusions 302
13 Cranial Base Dysmorphology and Growth in Facial Clefting 307
13.1. Introduction 307
13.2. Prenatal Development of the Cranial Base in Cleft Samples 307
13.3. Postnatal Development of the Cranial Base in Cleft Samples 310
13.4. Mechanisms for Basicranial Influences on Clefting 316
13.5. Conclusions 317
14 Cranial Vault Dysmorphology and Growth in Craniosynostosis 321
14.1. Introduction 321
14.2. The Relevant Questions 323
14.3. Soft Tissue-Hard Tissue Interactions as an Explanation for Craniofacial Dysmorphology and Growth 324
14.4. Formation and Growth of Calvarial Bones and the Cranial Vault 326
14.5. Lessons from Evolution and Development 328
14.6. The Genetic Basis of Craniofacial (Dys)Morphology 330
14.7. Conclusions: Some Preliminary Answers and New Questions 333
V Midfacial and Mandibular Dysmorphology and Growth Disturbances 343
15 Evolutionary Changes in the Midface and Mandible: Establishing the Primate Form 345
15.1. Introduction 345
15.2. General Principles of Midfacial Ontogeny 346
15.3. Anatomic Features of the Primate Midface 348
15.4. General Principles of Evolutionary Biology 367
15.5. General Principles of Craniofacial and Midfacial Evolution 369
15.6. Summary 372
16 Facial Dysmorphology in the Craniosynostoses: Clinical Implications 379
16.1. Introduction 379
16.2. Theories of Craniosynostosis Etiopathogenesis 380
16.3. Clinical Management of Craniosynostosis 382
16.4. Patterns of Dysmorphogenesis 383
16.5. Experimental Studies 385
16.6. Conclusions 388
17 Midfacial and Mandibular Dysmorphology and Growth in Facial Clefting: Clinical Implications 391
17.1. Introduction 391
17.2. Cleft Lip/Cleft Palate 391
17.3. Other Facial Clefts 415
17.4. Summary and Conclusions 416
VI Regional Dysmorphology and Growth Disturbances 423
18 Dental Development and Anomalies in Craniosynostoses and Facial Clefting 425
18.1. Introduction 425
18.2. Tooth Number 426
18.3. What to Measure and Improving Technologies 427
18.4. Tooth Crown Formation 430
18.5. Tooth Size 434
18.6. Diminished Postnatal Growth with CLP 436
18.7. Bilateral Asymmetry 439
18.8. Types of Asymmetry 441
18.9. Dental Age 444
18.10. Syndromic Craniosynostoses 449
18.11. Dental Response to Stress 451
18.12. CLP: A Developmental Model 451
18.13. Perspective 453
19 Vocal Tract Anatomy and Functional Consequences in Cleft Lip/Palate and Syndromes of Craniosynostosis 469
19.1. Introduction 469
19.2. Normal Anatomy of the Vocal Tract 469
19.3. Congenital Anomalies of the Human Supralaryngeal Vocal Tract 477
19.4. Summary 489
VII Molecular Biology Studies and Future Directions 495
20 Molecular Studies of Craniosynostosis: Factors Affecting Cranial Suture Morphogenesis and Patency 497
20.1. Introduction: Regulation of Suture Morphogenesis and Patency 497
20.2. Molecular Regulation of Suture Morphogenesis and Patency 499
20.3. Interactions Between Growth and Transcription Factors in Regulating Suture Morphogenesis and Patency 510
20.4. Conclusions, Future Studies, and Directions 511
21 Molecular Studies of Facial Clefting: From Mouse to Man 519
21.1. Introduction 519
21.2. Etiology of Nonsyndromic Oral Clefts 519
21.3. Investigating the Fraser-Juriloff Paradigm 521
21.4. IGF-IIR/TGF-[beta]2 Epigenetic Network 531
21.5. Conclusion 542
22 Molecules and Faces: What is on the Horizon? 549
22.1. Introduction 549
22.2. Molecular Advances in Craniofacial Morphogenesis 552
22.3. Biomimetics for Repair and Regeneration of Craniofacial Tissues 557
22.4. Possibilities For Craniofacial and Skeletal Growth Modifications 557
22.5. Prospectus for the 21st Century 558
Index 561

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