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Record Nr. |
UNINA9910488697603321 |
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Titolo |
Fundamentals of craniofacial malformations . Volume 1 : Disease and diagnostics / / Ulrich Meyer, editor |
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Pubbl/distr/stampa |
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Cham, Switzerland : , : Springer, , [2021] |
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©2021 |
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ISBN |
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Descrizione fisica |
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1 online resource (394 pages) |
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Disciplina |
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Soggetti |
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Head - Abnormalities |
Face - Abnormalities |
Malformacions |
Cara |
Cap |
Malformacions de l'articulació temporomandibular |
Llibres electrònics |
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Lingua di pubblicazione |
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Formato |
Materiale a stampa |
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Livello bibliografico |
Monografia |
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Nota di contenuto |
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Intro -- Foreword -- Preface -- Acknowledgements -- Contents -- About the Editor -- Part I: General Aspects -- 1: The Challenge of Craniofacial Malformation Medicine in Perspective -- 1.1 Craniofacial Malformations in Arts and Media -- 1.2 Craniofacial Malformation and Societal Assessment -- 1.3 The Concept of Beauty -- 1.4 Craniofacial Malformations and Self-Assessment -- 1.5 Parental Involvement -- 1.6 Patient-Physician Communication -- 1.7 History of Facial Plastic, Reconstructive, and Cleft Surgery -- 1.8 The Evolution of Craniofacial Surgery -- 1.9 Future Directions in Craniofacial Surgery and Medicine -- 1.10 The Societal Answer Toward Facially Disfigured Persons -- 1.11 The Core -- References -- 2: Prenatal Diagnosis of Fetal Cranial Anomalies -- 2.1 Introduction -- 2.2 Embryology and Cranial Development -- 2.3 Cranial Anomalies -- 2.3.1 Craniosynostosis -- 2.3.2 Deformational Plagiocephaly -- 2.3.3 Aplasia Cutis Congenita -- 2.3.4 Encephalocele -- 2.4 Prenatal Evaluation and Management -- 2.4.1 Two-Dimensional (2D) |
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and Three-Dimensional Ultrasound -- 2.4.2 Fetal Computed Tomography (CT) -- 2.4.3 Fetal Magnetic Resonance Imaging (MRI) -- 2.4.4 Prenatal Genetic Testing -- 2.4.5 Considerations for Delivery and Management -- 2.5 Conclusion -- References -- 3: Signal Pathways from the Plasma Membrane to the Nucleus Regulating Craniofacial Pattern Formation -- 3.1 Pattern Formation in Human Craniofacial Development -- 3.2 Signaling Pathways Regulating the Patterning and Growth of Facial Primordia -- 3.3 WNT/β-Catenin and Sonic Hedgehog Signaling in Facial Development -- 3.4 The Role of SMAD Proteins in Craniofacial Development -- 3.5 Loss-of-Function STAT3 Mutations in Hyper-IgE Syndrome -- 3.6 Design Principles of STAT3 Signaling -- 3.7 Nonclassical STAT3 Functions in Oxidative Respiration and Naïve Pluripotency. |
References -- 4: The Developmental Interrelation Between the Nervous System and Craniofacial Complex as Evidenced from Craniofacial Malformations -- 4.1 Introduction -- 4.2 Development of the Craniofacial Complex -- 4.3 Craniofacial Dysmorphism -- 4.3.1 Dysmorphology -- 4.3.2 Malformations of the Craniofacial Complex -- 4.3.3 Craniofacial Microsomia (CFM) -- 4.4 Oral Clefts -- 4.4.1 Cleft Lip With or Without Cleft Palate -- 4.4.2 Cleft Palate (Isolated Cleft Palate, CPO) -- 4.5 Craniofacial Anomalies Induced by Teratogens -- 4.5.1 Methotrexate Embryopathy -- 4.5.2 Retinoid Embryopathy -- 4.5.3 Cyclophosphamide Embryopathy -- 4.5.4 Mycophenolate Mofetil -- 4.5.5 Valproic Acid (VPA) and Other Antiepileptic Drugs -- 4.5.6 Alcohol (Ethanol) Embryopathy -- 4.5.7 Smoking and Oral Clefts -- 4.6 Craniosynostoses and Primary Abnormalities in the Shape of the Skull -- 4.6.1 Syndromic Craniosynostoses -- 4.6.2 Specific Syndromes -- 4.6.3 Non-syndromic Craniosynostosis -- 4.7 Genetic Syndromes Affecting Extracranial Organs with Craniofacial Manifestations -- 4.8 Anomalies of Dentition and Craniofacial Malformations -- 4.9 Conclusions -- References -- 5: Morphometrics, Optical 3D Imaging, and Monitoring of Craniofacial Development and Malformations -- 5.1 Introduction -- 5.2 Cephalometry -- 5.3 Medical Applications -- 5.4 Scanning Techniques -- 5.4.1 Photogrammetry -- 5.4.2 Structure from Motion (SFM) -- 5.4.3 Structured Light -- 5.4.4 Time-of-Flight Cameras -- 5.4.5 Accuracy -- 5.5 Clinical Application -- 5.5.1 Augmented Reality -- 5.6 Radiological Detection of Facial and Cranial Structures -- 5.7 Symmetry Analysis -- 5.7.1 Cranial Vault Asymmetry Index (CVAI) -- 5.7.2 The 3D Asymmetry Index (3DAI) -- 5.7.3 Landmarks -- 5.8 Shape Analysis -- 5.8.1 Bookstein Coordinates -- 5.8.2 Procrustes Analysis. |
5.8.3 Anthropometric Mask -- 5.9 Conclusion -- References -- 6: Classification of Craniofacial Malformations -- 6.1 Introduction -- 6.2 The Development of Classification Systems -- 6.3 Current Concepts of Disease Classification -- 6.4 Genetic Access to Normal and Disturbed Head Formation -- 6.5 Pathogenetic Access to Normal and Disturbed Head Formation -- 6.6 Aspects of Disease-Related Phenotype Documentation -- 6.7 Craniofacial Classification Models -- 6.8 Proposed New Classification System -- References -- Part II: Biological Basis of Disease -- 7: The Biological Basis of Chromosomal and Single Gene Disorders -- 7.1 DNA -- 7.1.1 What Are Chromosomes? -- 7.1.2 Then What Are Genes? Where Are They Located? -- 7.2 Alleles -- 7.2.1 Derivation of Fundamental Laws of Inheritance -- 7.2.2 What Are Genetic Disorders? -- 7.2.3 Single Gene Disorders -- 7.2.4 Mode of Inheritance in Single Gene Disorder -- 7.2.5 Mutations in Single Gene Disorders -- 7.3 Chromosomal Disorders -- 7.3.1 Numerical Abnormalities in Chromosomal Disorders -- 7.3.2 Structural Abnormalities in Chromosomal Disorders -- 7.3.2.1 |
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Balanced Rearrangements -- 7.3.2.2 Unbalanced Rearrangements -- 7.4 Cancer: A Genetic Disease -- 7.4.1 Genetic Factors in Cancer -- 7.4.2 Other Contributing Factors in Cancer -- 7.5 Conclusion -- References -- 8: Fundamental Mechanisms of Orofacial Clefts -- 8.1 Introduction -- 8.2 Genetics and Signaling Mechanisms of Orofacial Clefts -- 8.2.1 Genetics of Nonsyndromic Human Orofacial Clefts and Mechanistic Animal Model Studies -- 8.2.2 Syndromic Human Orofacial Clefts and Mechanistic Animal Model Studies -- 8.2.2.1 Van der Woude Syndrome -- 8.2.2.2 Pierre Robin Sequence -- 8.2.2.3 Chromosome 22. 22q11.2 Deletion Syndrome -- 8.2.2.4 Craniofacial Ciliopathies -- 8.2.2.5 Hedgehog Signaling. |
8.3 Essential Nutrients and Orofacial Clefts -- 8.3.1 Dietary Folate -- 8.3.2 Dietary Retinoids -- 8.4 Pharmaceuticals and Orofacial Clefts -- 8.4.1 Pharmaceutical Retinoids -- 8.4.2 Glucocorticoids -- 8.4.3 Anti-epileptic Drugs -- 8.5 Domestic and Occupational Exposures and Orofacial Clefts -- 8.5.1 Solvents -- 8.5.2 Pesticides -- 8.5.3 Dioxins -- 8.5.4 Polychlorinated Biphenyls and Polychlorinated Dibenzofurans -- 8.5.5 Metals -- 8.5.6 Air Pollutants -- 8.6 Parental Behavior, Metabolic Status, and Orofacial Clefts -- 8.6.1 Tobacco Smoking -- 8.6.2 Electronic Nicotine Delivery Systems -- 8.6.3 Alcohol Consumption -- 8.6.4 Metabolic Disease -- 8.7 Geography, Ethnic Influences, and Orofacial Clefts -- 8.8 Pathogens and Orofacial Clefts -- 8.9 Epigenetic Mechanisms of Orofacial Clefts -- 8.9.1 DNA Methylation -- 8.9.2 Histone Modifications -- 8.10 MicroRNAs and Orofacial Clefts -- 8.11 Conclusions and Perspectives -- References -- 9: Biological Basis of Craniosynostosis -- 9.1 Introduction -- 9.2 Syndromic Forms of Primary Craniosynostoses -- 9.2.1 Crouzon Syndrome -- 9.2.2 Apert Syndrome -- 9.2.3 Pfeiffer Syndrome -- 9.2.4 Jackson-Weiss Syndrome -- 9.2.5 Muenke Syndrome -- 9.2.6 Saethre-Chotzen Syndrome -- 9.2.7 Craniofrontonasal Syndrome -- 9.3 Non-syndromic Forms of Primary Craniosynostoses -- 9.4 Secondary Craniosynostoses -- 9.5 Conclusion -- References -- 10: Biological Basis of Branchial Arch Diseases -- 10.1 Introduction -- 10.2 Pathogenesis of Facial Development -- 10.3 Tissue and Organs Involved in Branchial Arch Diseases -- 10.3.1 Anatomical Involvement -- 10.3.1.1 Bones -- 10.3.1.2 Muscles -- 10.3.1.3 Nerves -- 10.3.2 Sensory Organs (Eyes, Ears, Tongue) -- 10.3.2.1 Ears -- 10.3.2.2 Eyes -- 10.3.2.3 Tongue -- 10.4 Branchial Arch Syndromes -- 10.4.1 Treacher Collins syndrome. |
10.4.1.1 General -- 10.4.1.2 Epidemiology -- 10.4.1.3 Genetics -- 10.4.1.4 Clinical Manifestation -- 10.4.2 Hemifacial Microsomia/Oculo-auriculo-vertebral Dysplasia with Subtype Goldenhar Syndrome -- 10.4.2.1 General -- 10.4.2.2 Epidemiology -- 10.4.2.3 Genetics -- 10.4.2.4 Clinical Manifestation -- 10.4.3 Auriculocondylar Syndrome -- 10.4.3.1 General -- 10.4.3.2 Epidemiology -- 10.4.3.3 Genetics -- 10.4.3.4 Clinical Manifestation -- 10.4.4 Stickler Syndrome -- 10.4.4.1 General -- 10.4.4.2 Epidemiology -- 10.4.4.3 Genetics -- 10.4.4.4 Clinical Manifestation -- 10.4.5 DiGeorge Syndrome -- 10.4.5.1 General -- 10.4.5.2 Epidemiology -- 10.4.5.3 Genetics -- 10.4.5.4 Clinical Manifestation -- 10.4.6 Pierre Robin Syndrome/Sequence (PRS) -- 10.4.6.1 General -- 10.4.6.2 Epidemiology -- 10.4.6.3 Genetics -- 10.4.6.4 Clinical Manifestation -- 10.4.7 Acrofacial Dysostosis -- 10.4.7.1 Nager Syndrome -- General -- Epidemiology -- Genetics -- Clinical Manifestation -- 10.4.7.2 Miller Syndrome -- General -- Epidemiology -- Genetics -- Clinical Manifestation -- 10.4.7.3 Cincinnati Type -- General -- Epidemiology -- Genetics -- Clinical Manifestation -- |
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References -- 11: The Biological Basis of Craniofacially Conjoined Twins -- 11.1 Introduction -- 11.2 Epidemiology of Conjoined Twins -- 11.3 History of Conjoined Twins (Siamese Twins) -- 11.4 Types of Conjoined Twins -- 11.5 Types of Twinning in the Craniofacial Region -- 11.6 Biology of Conjoined Twinning -- 11.7 Biology of Facial Duplication -- 11.8 Early Diagnostics of Conjoined Twins -- References -- 12: Biological Basis of Craniofacial Soft Tissue Malformations -- 12.1 Introduction -- 12.2 Phakomatoses -- 12.2.1 Nevoid Basal Cell Carcinoma Syndrome (NBCCS, Gorlin-Goltz Syndrome) -- 12.2.2 Neurofibromatosis (NF) -- 12.2.3 Sturge-Weber Syndrome (SWS). |
12.2.4 von Hippel-Lindau Disease (VHL). |
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