Schmid / Muenke / Kress Craniosynostoses

Molecular Genetics, Principles of Diagnosis, and Treatment.
1. Auflage 2011
ISBN: 978-3-8055-9595-7
Verlag: S. Karger
Format: PDF
Kopierschutz: Adobe DRM (»Systemvoraussetzungen)

E-Book, Englisch, Band 19, 250 Seiten

Reihe: Monographs in Human Genetics

Craniosynostosis - the premature fusion of the cranial sutures of an infant's skull - is a challenging and complex condition that can occur as part of a syndrome or in isolation. In the last two decades increased knowledge about the structure and function of the human genome has enabled the discovery of the molecular etiologies of most forms of syndromic craniosynostosis, which in turn has allowed for the analysis of normal and abnormal sutural biology from the atomic to the population-based level. In parallel with the increase in basic biological understanding, advances in clinical diagnosis and treatment have been achieved including improved prenatal imaging technology and craniofacial surgical techniques as well as condition-specific care in specialized hospitals and clinical units. This book represents a comprehensive overview on the subject of craniosynostosis. Its 19 excellent chapters were written by the foremost authorities in the field for a wide range of readers. They cover topics including a historical review, basic biological and molecular studies, the various common and uncommon syndromes, nonsyndromic craniosynostoses, genetic testing, prenatal ultrasonography, and recent methods of neurosurgical and maxillofacial treatment. Both investigators at the bench and clinicians at the operating table will appreciate this timely book which will be the definitive volume on craniosynostosis for many years to come.

Autoren/Hrsg.

Schmid,

Muenke

Schmid, M.

Kress

Collmann

Kress, W.

Solomon

Collmann, H.

Solomon, B.D.

Weitere Mitwirkende

Schmid

Fachgebiete

• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Klinische und Innere Medizin Pädiatrie, Neonatologie
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Vorklinische Medizin: Grundlagenfächer Molekulare Medizin, Zellbiologie
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Vorklinische Medizin: Grundlagenfächer Humangenetik

Inhaltsverzeichnis

1;Monographs in Human Genetics Vol. 19;3
2;Craniosynostoses;4
2.1;Molecular Genetics, Principles of Diagnosis, and Treatment;4
3;Contents;6
4;Editorial;8
5;Preface;9
6;Foreword;10
7;Chapter 1;12
7.1;Craniosynostosis: A Historical Overview;12
7.1.1;Abstract;12
7.1.2;General History;12
7.1.3;Syndromic Craniosynostosis and GeneticDiscoveries;13
7.1.4;History of Treatment Aspects ofCraniosynostosis;16
7.1.5;Concluding Remarks;17
7.1.6;Acknowledgements;17
7.1.7;References;17
8;Chapter 2;19
8.1;Discovery of MSX2 Mutation in Craniosynostosis:A Retrospective View;19
8.1.1;Abstract;19
8.1.2;Family Identification;19
8.1.3;Discovery of the Causative Mutation;21
8.1.4;Functional Analyses of the Mutation;21
8.1.5;Conclusion;22
8.1.6;Acknowledgement;22
8.1.7;References;23
9;Chapter 3;24
9.1;Regulation of Calvarial Bone Growth by MoleculesInvolved in the Craniosynostoses;24
9.1.1;Abstract;24
9.1.2;Anatomy and Origins of the Cranial Vault;25
9.1.3;Calvarial Sutures as Intramembranous BoneGrowth Sites;26
9.1.4;Transcriptional Control of OsteoblastCommitment and Differentiation;27
9.1.5;Ephrins, Boundary Formation, and DirectedBone Growth;28
9.1.6;Fibroblast Growth Factor Receptors in CranialOsteoblast Proliferation and Differentiation;30
9.1.7;Transforming Growth Factor Beta, OsteoblastFunction, and Suture Maintenance;35
9.1.8;Integration of Signaling and ConcludingRemarks;36
9.1.9;References;36
10;Chapter 4;39
10.1;Signal Transduction Pathways and TheirImpairment in Syndromic Craniosynostosis;39
10.1.1;Abstract;39
10.1.2;Suture Anatomy;40
10.1.3;Dura Mater;41
10.1.4;Pericranium;43
10.1.5;Osteogenic Fronts and Suture Mesenchyme;43
10.1.6;Genes Associated with SyndromicCraniosynostosis;45
10.1.7;Fibroblast Growth Factor (FGF) Receptors;45
10.1.8;TWIST1;47
10.1.9;MSX2;47
10.1.10;Eph/Ephrin Signaling;47
10.1.11;TGFß Signaling;48
10.1.12;Integration of Pathways and Mechanisms ofCraniosynostosis;48
10.1.13;References;53
11;Chapter 5;56
11.1;The Molecular Bases for FGF Receptor Activation inCraniosynostosis and Dwarfism Syndromes;56
11.1.1;Abstract;56
11.1.2;Structural and Biochemical Analysis ofMutations Leading to Ligand- Dependent Gainof Function;58
11.1.3;Structural and Biochemical Analysis ofMutations Leading to Ligand- IndependentGain of Function;65
11.1.4;Conclusion;65
11.1.5;Acknowledgements;66
11.1.6;References;66
12;Chapter 6;69
12.1;Recurrent Germline Mutations in the FGFR2/3Genes, High Mutation Frequency, Paternal Skewingand Age- Dependence;69
12.1.1;Abstract;69
12.1.2;Specific Human Germline NucleotideSubstitutions Predominantly Come from Menand Increase with Age;69
12.1.3;Models to Explain Male Bias and the PaternalAge Effect;69
12.1.4;Human Germline Nucleotide SubstitutionMutations Vary Markedly in Frequency;70
12.1.5;Confirmation of High Nucleotide SubstitutionGermline Mutation Frequencies, Mutation HotSpot versus Germline Selection Model;70
12.1.6;Testing the Mutation Hot Spot versusGermline Selection Model;71
12.1.7;Experimental Analysis;71
12.1.8;Apert Syndrome Mutation Frequencies inYoung Testis Donors;73
12.1.9;Testis Distribution of a C to G TransversionMutation at a Control CpG Site;73
12.1.10;By Including Selection, ComputationalAnalysis Explains the Testis Data;73
12.1.11;The Parental Age Effect of Apert SyndromeOccurrence Revisited;74
12.1.12;Why Does the Sperm Mutation Frequency Goup with Age?;76
12.1.13;References;76
13;Chapter 7;78
13.1;Apert, Crouzon, and Pfeiffer Syndromes;78
13.1.1;Abstract;78
13.1.2;Apert Syndrome;78
13.1.3;Crouzon Syndrome;92
13.1.4;Pfeiffer Syndrome;94
13.1.5;Acknowledgement;98
13.1.6;References;98
14;Chapter 8;100
14.1;Muenke Syndrome;100
14.1.1;Abstract;100
14.1.2;Gene Discovery;101
14.1.3;Inheritance and Genetic Counseling;101
14.1.4;Clinical Findings and Diagnosis;102
14.1.5;Management;104
14.1.6;Molecular Pathogenesis;104
14.1.7;Conclusions;106
14.1.8;Acknowledgements;106
14.1.9;References;107
15;Chapter 9;109
15.1;Saethre- Chotzen Syndrome: Clinical and MolecularGenetic Aspects;109
15.1.1;Abstract;109
15.1.2;Phenotypic Features;109
15.1.3;The SCS Causing Gene TWIST1;113
15.1.4;TWIST1 Mutational Spectrum;115
15.1.5;Mouse Model;116
15.1.6;Treatment;116
15.1.7;References;116
16;Chapter 10;118
16.1;Craniofrontonasal Syndrome: Molecular Genetics,EFNB1 Mutations and the Concept of CellularInterference;118
16.1.1;Abstract;118
16.1.2;Clinical Features;118
16.1.3;Pattern of Inheritance;120
16.1.4;The CFNS Causing Gene EFNB1;121
16.1.5;EFNB1 Mutation Spectrum;122
16.1.6;Sex- Dependent Manifestation and ProposedPathomechanism in CFNS;125
16.1.7;Genetic Mouse Models for CFNS;127
16.1.8;Acknowledgements;127
16.1.9;References;127
17;Chapter 11;130
17.1;Uncommon Craniosynostosis Syndromes: A Reviewof Thirteen Conditions;130
17.1.1;Abstract;130
17.1.2;Antley- Bixler Syndrome (MIM #207410)P450 Oxidoreductase (POR) Deficiency (MIM#201750);134
17.1.3;Baller- Gerold Syndrome (MIM #218600);137
17.1.4;Beare- Stevenson Cutis Gyrata Syndrome (MIM#123790);138
17.1.5;C (Opitz Trigonocephaly) Syndrome (MIM#211750)Bohring- Opitz Syndrome (MIM #605039);139
17.1.6;Carpenter Syndrome (MIM #201000);140
17.1.7;Crouzon Syndrome with Acanthosis Nigricans(MIM #612247);141
17.1.8;Jackson- Weiss Syndrome (MIM #123150);142
17.1.9;Jacobsen Syndrome (MIM #147791);143
17.1.10;Osteoglophonic Dysplasia (MIM #166250);145
17.1.11;Shprintzen- Goldberg Syndrome (MIM#182212)Loeys- Dietz Syndrome, Types IA and IB (MIM#609192, MIM #610168);147
17.1.12;Acknowledgements;149
17.1.13;References;149
18;Chapter 12;154
18.1;Metopic Craniosynostosis Syndrome Due toMutations in GLI3;154
18.1.1;Abstract;154
18.1.2;Case Reports;155
18.1.3;GLI3 Pathogenesis and Mutation Spectrum;159
18.1.4;Genetic Mouse Models for GLI3 Disorders;160
18.1.5;Conclusion and Implications;161
18.1.6;Acknowledgements;161
18.1.7;References;161
19;Chapter 13;163
19.1;Craniosynostosis and Chromosomal Alterations;163
19.1.1;Abstract;163
19.1.2;Chromosomal Alterations;164
19.1.3;Craniosynostosis Syndromes Due toChromosomal Deletions: 9p and 11q;168
19.1.4;Chromosomal Rearrangements and TheirContribution to the Identification ofCraniosynostotic Candidate Genes;169
19.1.5;Submicroscopic Rearrangements:An Important Cause of Craniosynostosis?;170
19.1.6;Conclusions;170
19.1.7;References;171
20;Chapter 14;176
20.1;Nonsyndromic Craniosynostoses;176
20.1.1;Abstract;176
20.1.2;Scaphocephaly;177
20.1.3;Trigonocephaly;179
20.1.4;Anterior Plagiocephaly;180
20.1.5;Brachycephaly;181
20.1.6;Posterior Plagiocephaly;182
20.1.7;Bisutural Synostosis;183
20.1.8;Oxycephaly;184
20.1.9;Acknowledgements;185
20.1.10;References;185
21;Chapter 15;188
21.1;Molecular Genetic Testing of Patients withCraniosynostosis;188
21.1.1;Abstract;188
21.1.2;First Step: Clinical Evaluation;189
21.1.3;Second Step: Genetic Workup ofCraniosynostosis;189
21.1.4;Third Step: Interpretation of Test Results andGenetic Counseling;192
21.1.5;References;194
22;Chapter 16;195
22.1;Prenatal Sonographic Diagnosis ofCraniosynostosis;195
22.1.1;Abstract;195
22.1.2;Ultrasound Examination of the Normal FetalSkull;195
22.1.3;Ultrasound in Craniosynostosis;197
22.1.4;Conclusion;209
22.1.5;References;209
23;Chapter 17;210
23.1;Clinical Approach to Craniosynostosis;210
23.1.1;Abstract;210
23.1.2;Abnormal Head Shape in the Absence ofCraniosynostosis;210
23.1.3;Abnormal Head Shape Due toCraniosynostosis;211
23.1.4;Imaging Studies to Confirm Synostosis;213
23.1.5;Underlying Etiology Varies by Affected Sutureor Sutures;214
23.1.6;Clinical Evaluation: Family History;215
23.1.7;Clinical Evaluation: Past Medical History;215
23.1.8;Clinical Evaluation: Physical Examination;217
23.1.9;Evaluation of Specific Organ Systems andTheir Function: Central Nervous System andNeurodevelopment;219
23.1.10;Evaluation of Specific Organ Systems andTheir Function: OphthalmologicConsiderations;221
23.1.11;Evaluation of Specific Organ Systems andTheir Function: OtolaryngologicConsiderations;221
23.1.12;Evaluation of Specific Organ Systems andTheir Function: Growth and Feeding;222
23.1.13;Evaluation of Specific Organ Systems andTheir Function: Internal Organs;222
23.1.14;Evaluation of Specific Organ Systems andTheir Function: MusculoskeletalConsiderations;222
23.1.15;Differential Diagnosis and Laboratory Testing;223
23.1.16;Multidisciplinary Treatment Approach;224
23.1.17;References;224
24;Chapter 18;227
24.1;Imaging Studies and Neurosurgical Treatment;227
24.1.1;Abstract;227
24.1.2;Technical Aids of Examination;227
24.1.3;Principles of Treatment;233
24.1.4;Surgical Risks;235
24.1.5;Postoperative Surveillance and Strategies;237
24.1.6;Management of Specific Types ofCraniosynostosis;238
24.1.7;References;241
25;Chapter 19;243
25.1;Maxillofacial Examination and Treatment;243
25.1.1;Abstract;243
25.1.2;Development of the Midface;243
25.1.3;Abnormalities of the Viscerocranium inCraniosynostosis;244
25.1.4;Principles of Maxillofacial Treatment inPatients with Craniosynostosis;246
25.1.5;References;253
26;Author Index;255
27;Subject Index;256