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[null,null,"Titolo",null,"Fundamentals of craniofacial malformations . Volume 1 : Disease and diagnostics / / Ulrich Meyer, editor"]
[null,null,"Pubbl/distr/stampa",null,"Cham, Switzerland : , : Springer, , [2021]"]
[{"$nulls":4},"©2021"]
[null,null,"ISBN",null,"3-030-46024-X"]
[null,null,"Descrizione fisica",null,"1 online resource (394 pages)"]
[null,null,"Disciplina",null,"617.5107572"]
[null,null,"Soggetti",null,"Head - Abnormalities"]
[{"$nulls":4},"Face - Abnormalities"]
[{"$nulls":4},"Malformacions"]
[{"$nulls":4},"Cara"]
[{"$nulls":4},"Cap"]
[{"$nulls":4},"Malformacions de l'articulació temporomandibular"]
[{"$nulls":4},"Llibres electrònics"]
[null,null,"Lingua di pubblicazione",null,"Inglese"]
[null,null,"Formato",null,"Materiale a stampa"]
[null,null,null,"Livello bibliografico","Monografia"]
[null,null,"Nota di contenuto",null,"Intro -- Foreword -- Preface -- Acknowledgements -- Contents -- About the Editor -- Part I: General Aspects -- 1: The Challenge of Craniofacial Malformation Medicine in Perspective -- 1.1  Craniofacial Malformations in Arts and Media -- 1.2  Craniofacial Malformation and Societal Assessment -- 1.3  The Concept of Beauty -- 1.4  Craniofacial Malformations and Self-Assessment -- 1.5  Parental Involvement -- 1.6  Patient-Physician Communication -- 1.7  History of Facial Plastic, Reconstructive, and Cleft Surgery -- 1.8  The Evolution of Craniofacial Surgery -- 1.9  Future Directions in Craniofacial Surgery and Medicine -- 1.10  The Societal Answer Toward Facially Disfigured Persons -- 1.11  The Core -- References -- 2: Prenatal Diagnosis of Fetal Cranial Anomalies -- 2.1  Introduction -- 2.2  Embryology and Cranial Development -- 2.3  Cranial Anomalies -- 2.3.1  Craniosynostosis -- 2.3.2  Deformational Plagiocephaly -- 2.3.3  Aplasia Cutis Congenita -- 2.3.4  Encephalocele -- 2.4  Prenatal Evaluation and Management -- 2.4.1  Two-Dimensional (2D) and Three-Dimensional Ultrasound -- 2.4.2  Fetal Computed Tomography (CT) -- 2.4.3  Fetal Magnetic Resonance Imaging (MRI) -- 2.4.4  Prenatal Genetic Testing -- 2.4.5  Considerations for Delivery "]
[{"$nulls":4},"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."]
[{"$nulls":4},"References -- 4: The Developmental Interrelation Between the Nervous System and Craniofacial Complex as Evidenced from Craniofacial Malformations -- 4.1  Introduction -- 4.2  Development of the Craniofacial Complex -- 4.3  Craniofacial Dysmorphism -- 4.3.1  Dysmorphology -- 4.3.2  Malformations of the Craniofacial Complex -- 4.3.3  Craniofacial Microsomia (CFM) -- 4.4  Oral Clefts -- 4.4.1  Cleft Lip With or Without Cleft Palate -- 4.4.2  Cleft Palate (Isolated Cleft Palate, CPO) -- 4.5  Craniofacial Anomalies Induced by Teratogens -- 4.5.1  Methotrexate Embryopathy -- 4.5.2  Retinoid Embryopathy -- 4.5.3  Cyclophosphamide Embryopathy -- 4.5.4  Mycophenolate Mofetil -- 4.5.5  Valproic Acid (VPA) and Other Antiepileptic Drugs -- 4.5.6  Alcohol (Ethanol) Embryopathy -- 4.5.7  Smoking and Oral Clefts -- 4.6  Craniosynostoses and Primary Abnormalities in the Shape of the Skull -- 4.6.1  Syndromic Craniosynostoses -- 4.6.2  Specific Syndromes -- 4.6.3  Non-syndromic Craniosynostosis -- 4.7  Genetic Syndromes Affecting Extracranial Organs with Craniofacial Manifestations -- 4.8  Anomalies of Dentition and Craniofacial Malformations -- 4.9  Conclusions -- References -- 5: Morphometrics, Optical 3D Imaging, and Monitoring of Craniofacial Development and Malformations -- 5.1  Introduction -- 5.2  Cephalometry -- 5.3  Medical Applications -- 5.4  Scanning Techniques -- 5.4.1  Photogrammetry -- 5.4.2  Structure from Motion (SFM) -- 5.4.3  Structured Light -- 5.4.4  Time-of-Flight Cameras -- 5.4.5  Accuracy -- 5.5  Clinical Application -- 5.5.1  Augmented Reality -- 5.6  Radiological Detection of Facial and Cranial Structures -- 5.7  Symmetry Analysis -- 5.7.1  Cranial Vault Asymmetry Index (CVAI) -- 5.7.2  The 3D Asymmetry Index (3DAI) -- 5.7.3  Landmarks -- 5.8  Shape Analysis -- 5.8.1  Bookstein Coordinates -- 5.8.2  Procrustes Analysis."]
[{"$nulls":4},"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  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 -- "]
[{"$nulls":4},"References -- 8: Fundamental Mechanisms of Orofacial Clefts -- 8.1  Introduction -- 8.2  Genetics and Signaling Mechanisms of Orofacial Clefts -- 8.2.1  Genetics of Nonsyndromic Human Orofacial Clefts and Mechanistic Animal Model Studies -- 8.2.2  Syndromic Human Orofacial Clefts and Mechanistic Animal Model Studies -- 8.2.2.1  Van der Woude Syndrome -- 8.2.2.2  Pierre Robin Sequence -- 8.2.2.3  Chromosome 22. 22q11.2 Deletion Syndrome -- 8.2.2.4  Craniofacial Ciliopathies -- 8.2.2.5  Hedgehog Signaling."]
[{"$nulls":4},"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."]
[{"$nulls":4},"10.4.1.1  General -- 10.4.1.2  Epidemiology -- 10.4.1.3  Genetics -- 10.4.1.4  Clinical Manifestation -- 10.4.2  Hemifacial Microsomia/Oculo-auriculo-vertebral Dysplasia with Subtype Goldenhar Syndrome -- 10.4.2.1  General -- 10.4.2.2  Epidemiology -- 10.4.2.3  Genetics -- 10.4.2.4  Clinical Manifestation -- 10.4.3  Auriculocondylar Syndrome -- 10.4.3.1  General -- 10.4.3.2  Epidemiology -- 10.4.3.3  Genetics -- 10.4.3.4  Clinical Manifestation -- 10.4.4  Stickler Syndrome -- 10.4.4.1  General -- 10.4.4.2  Epidemiology -- 10.4.4.3  Genetics -- 10.4.4.4  Clinical Manifestation -- 10.4.5  DiGeorge Syndrome -- 10.4.5.1  General -- 10.4.5.2  Epidemiology -- 10.4.5.3  Genetics -- 10.4.5.4  Clinical Manifestation -- 10.4.6  Pierre Robin Syndrome/Sequence (PRS) -- 10.4.6.1  General -- 10.4.6.2  Epidemiology -- 10.4.6.3  Genetics -- 10.4.6.4  Clinical Manifestation -- 10.4.7  Acrofacial Dysostosis -- 10.4.7.1  Nager Syndrome -- General -- Epidemiology -- Genetics -- Clinical Manifestation -- 10.4.7.2  Miller Syndrome -- General -- Epidemiology -- Genetics -- Clinical Manifestation -- 10.4.7.3  Cincinnati Type -- General -- Epidemiology -- Genetics -- Clinical Manifestation -- References -- 11: The Biological Basis of Craniofacially Conjoined Twins -- 11.1  Introduction -- 11.2  Epidemiology of Conjoined Twins -- 11.3  History of Conjoined Twins (Siamese Twins) -- 11.4  Types "]
[{"$nulls":4},"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)."]
[{"$nulls":4},"12.2.4  von Hippel-Lindau Disease (VHL)."]