Understanding craniofacial anomalies : the etiopathogenesis of craniosynostoses and facial clefting / edited by Mark P. Mooney, Michael I. Siegel.

Format:

Book

Contributor:

Mooney, Mark P.

Siegel, Michael I.

Language:

English

Subjects (All):

Face--Abnormalities.

Face.

Skull--Abnormalities.

Skull.

Cleft palate.

Craniosynostoses.

Face--Abnormalities--Genetic aspects.

Face--abnormalities.

Skull--abnormalities.

Cleft Palate.

Craniofacial Abnormalities.

Medical Subjects:

Face--abnormalities.

Skull--abnormalities.

Cleft Palate.

Craniosynostoses.

Craniofacial Abnormalities.

Physical Description:

xxiii, 583 pages : illustrations ; 26 cm

Place of Publication:

New York : Wiley-Liss, 2002.

Summary:

This comprehensive textbook, edited by world-renowned experts in the field, provides answers to challenges in the diagnosis and treatment of craniofacial anomalies. The book integrates basic science and clinical perspectives, creating a more unified and practical "patient centered" approach. Organized in a logical, easy-to-follow structure, this reference reviews and presents cutting-edge findings, covering the state of the art in craniosynostosis and facial clefting from molecular, genetic, cellular, tissue, organismic, and populations levels. Using standardized nomenclature and consistent terminology, Understanding Craniofacial Anomalies incorporates the recent explosion of growth in studying genetic and epigenetic etiologies of syndromes, thereby providing a unique and holistic review of this important topic.

Contents:

1.2. Normal Craniofacial Morphology 3

1.3. Craniofacial Dysmorphology 5

2 Terminology and Classification of Craniosynostosis / Marilyn C. Jones, M.D. 11

2.2. Historical Perspective 11

3 Terminology and Classification of Facial Clefting / Robert J. Shprintzen, Ph.D. 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

II Embryogenesis and Etiology 29

4 Craniofacial Embryogenesis: Normal Developmental Mechanisms / Geoffrey H. Sperber, Ph.D. 31

4.2. Early Development 32

4.3. Neural Crest Tissue 35

4.4. Craniofacial Development 41

5 Craniofacial Embryogenesis: Abnormal Developmental Mechanisms / Malcolm C. Johnston, D.D.S., Ph.D., Peter T. Bronsky, D.M.D., M.S. 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

6 Genetic Etiologies of Craniosynostosis / Ethylin Wang Jabs, M.D. 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 / Mary L. Marazita, Ph.D., F.A.C.M.G. 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 / Vandana Shashi, M.D., Thomas C. Hart, D.D.S., Ph.D. 163

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

III Animal Modeling 207

9 Animal Models of Craniosynostosis: Experimental, Congenital, and Transgenic Models / Mark P. Mooney, Ph.D., Michael I. Siegel, Ph.D., Lynne M. Opperman, Ph.D. 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

10 Animal Models of Facial Clefting: Experimental, Congenital, and Transgenic / Virginia M. Diewert, D.D.S., M.Sc., Scott Lozanoff, Ph.D. 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 / Mark P. Mooney, Ph.D., Michael I. Siegel, Ph.D., Timothy D. Smith, Ph.D., Annie M. Burrows, Ph.D., D.P.T. 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

12 Cranial Base Dysmorphology and Growth in the Craniosynostoses / Alphonse R. Burdi, Ph.D. 295

12.1. Historical Perspective 295

12.2. The Etiopathogenesis of Cranial Base Abnormalities 296

12.3. Cranial Base Growth Patterns in Craniosynostosis 300

13 Cranial Base Dysmorphology and Growth in Facial Clefting / Timothy D. Smith, Ph.D., Mark P. Mooney, Ph.D., Annie M. Burrows, Ph.D., Michael I. Siegel, Ph.D. 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

14 Cranial Vault Dysmorphology and Growth in Craniosynostosis / Joan T. Richtsmeier, Ph.D. 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 / Joseph R. Siebert, Ph.D., Daris R. Swindler, Ph.D. 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

16 Facial Dysmorphology in the Craniosynostoses: Clinical Implications / Katherine W.L. Vig, B.D.S, M.S., D. Orth. 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

17 Midfacial and Mandibular Dysmorphology and Growth in Facial Clefting: Clinical Implications / Bruce Ross, D.D.S., Dip. Orthodontics, M.Sc., FRCD(Can) 391

17.2. Cleft Lip/Cleft Palate 391

17.3. Other Facial Clefts 415

VI Regional Dysmorphology and Growth Disturbances 423

18 Dental Development and Anomalies in Craniosynostoses and Facial Clefting / Edward F. Harris, Ph.D. 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 / Sally J. Peterson-Falzone, Ph.D., Patricia K. Monoson, Ph.D. 469

19.2. Normal Anatomy of the Vocal Tract 469

19.3. Congenital Anomalies of the Human Supralaryngeal Vocal Tract 477

VII Molecular Biology Studies and Future Directions 495

20 Molecular Studies of Craniosynostosis: Factors Affecting Cranial Suture Morphogenesis and Patency / Lynne A. Opperman, Ph.D., Roy C.

Ogle, Ph.D. 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 / Michael Melnick D.D.S., Ph.D., Tina Jaskoll Ph.D. 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

22 Molecules and Faces: What is on the Horizon? / Harold C. Slavkin, D.D.S., Ph.D. 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.

Notes:

Includes bibliographical references and index.

ISBN:

047138724X

OCLC:

48223699