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Craniosynostoses - Molecular Genetics, Principles of Diagnosis, and Treatment.
von: Schmid, M. Schmid, Kress, W. Kress, Collmann, H. Collmann, Solomon, B.D. Solomon
Karger, 2011
ISBN: 9783805595957 , 250 Seiten
Format: PDF, ePUB, OL
Kopierschutz: DRM
Preis: 479,55 EUR
Monographs in Human Genetics Vol. 19
3
Craniosynostoses
4
Molecular Genetics, Principles of Diagnosis, and Treatment
4
Contents
6
Editorial
8
Preface
9
Foreword
10
Chapter 1
12
Craniosynostosis: A Historical Overview
12
Abstract
12
General History
12
Syndromic Craniosynostosis and GeneticDiscoveries
13
History of Treatment Aspects ofCraniosynostosis
16
Concluding Remarks
17
Acknowledgements
17
References
17
Chapter 2
19
Discovery of MSX2 Mutation in Craniosynostosis:A Retrospective View
19
Abstract
19
Family Identification
19
Discovery of the Causative Mutation
21
Functional Analyses of the Mutation
21
Conclusion
22
Acknowledgement
22
References
23
Chapter 3
24
Regulation of Calvarial Bone Growth by MoleculesInvolved in the Craniosynostoses
24
Abstract
24
Anatomy and Origins of the Cranial Vault
25
Calvarial Sutures as Intramembranous BoneGrowth Sites
26
Transcriptional Control of OsteoblastCommitment and Differentiation
27
Ephrins, Boundary Formation, and DirectedBone Growth
28
Fibroblast Growth Factor Receptors in CranialOsteoblast Proliferation and Differentiation
30
Transforming Growth Factor Beta, OsteoblastFunction, and Suture Maintenance
35
Integration of Signaling and ConcludingRemarks
36
References
36
Chapter 4
39
Signal Transduction Pathways and TheirImpairment in Syndromic Craniosynostosis
39
Abstract
39
Suture Anatomy
40
Dura Mater
41
Pericranium
43
Osteogenic Fronts and Suture Mesenchyme
43
Genes Associated with SyndromicCraniosynostosis
45
Fibroblast Growth Factor (FGF) Receptors
45
TWIST1
47
MSX2
47
Eph/Ephrin Signaling
47
TGFß Signaling
48
Integration of Pathways and Mechanisms ofCraniosynostosis
48
References
53
Chapter 5
56
The Molecular Bases for FGF Receptor Activation inCraniosynostosis and Dwarfism Syndromes
56
Abstract
56
Structural and Biochemical Analysis ofMutations Leading to Ligand- Dependent Gainof Function
58
Structural and Biochemical Analysis ofMutations Leading to Ligand- IndependentGain of Function
65
Conclusion
65
Acknowledgements
66
References
66
Chapter 6
69
Recurrent Germline Mutations in the FGFR2/3Genes, High Mutation Frequency, Paternal Skewingand Age- Dependence
69
Abstract
69
Specific Human Germline NucleotideSubstitutions Predominantly Come from Menand Increase with Age
69
Models to Explain Male Bias and the PaternalAge Effect
69
Human Germline Nucleotide SubstitutionMutations Vary Markedly in Frequency
70
Confirmation of High Nucleotide SubstitutionGermline Mutation Frequencies, Mutation HotSpot versus Germline Selection Model
70
Testing the Mutation Hot Spot versusGermline Selection Model
71
Experimental Analysis
71
Apert Syndrome Mutation Frequencies inYoung Testis Donors
73
Testis Distribution of a C to G TransversionMutation at a Control CpG Site
73
By Including Selection, ComputationalAnalysis Explains the Testis Data
73
The Parental Age Effect of Apert SyndromeOccurrence Revisited
74
Why Does the Sperm Mutation Frequency Goup with Age?
76
References
76
Chapter 7
78
Apert, Crouzon, and Pfeiffer Syndromes
78
Abstract
78
Apert Syndrome
78
Crouzon Syndrome
92
Pfeiffer Syndrome
94
Acknowledgement
98
References
98
Chapter 8
100
Muenke Syndrome
100
Abstract
100
Gene Discovery
101
Inheritance and Genetic Counseling
101
Clinical Findings and Diagnosis
102
Management
104
Molecular Pathogenesis
104
Conclusions
106
Acknowledgements
106
References
107
Chapter 9
109
Saethre- Chotzen Syndrome: Clinical and MolecularGenetic Aspects
109
Abstract
109
Phenotypic Features
109
The SCS Causing Gene TWIST1
113
TWIST1 Mutational Spectrum
115
Mouse Model
116
Treatment
116
References
116
Chapter 10
118
Craniofrontonasal Syndrome: Molecular Genetics,EFNB1 Mutations and the Concept of CellularInterference
118
Abstract
118
Clinical Features
118
Pattern of Inheritance
120
The CFNS Causing Gene EFNB1
121
EFNB1 Mutation Spectrum
122
Sex- Dependent Manifestation and ProposedPathomechanism in CFNS
125
Genetic Mouse Models for CFNS
127
Acknowledgements
127
References
127
Chapter 11
130
Uncommon Craniosynostosis Syndromes: A Reviewof Thirteen Conditions
130
Abstract
130
Antley- Bixler Syndrome (MIM #207410)P450 Oxidoreductase (POR) Deficiency (MIM#201750)
134
Baller- Gerold Syndrome (MIM #218600)
137
Beare- Stevenson Cutis Gyrata Syndrome (MIM#123790)
138
C (Opitz Trigonocephaly) Syndrome (MIM#211750)Bohring- Opitz Syndrome (MIM #605039)
139
Carpenter Syndrome (MIM #201000)
140
Crouzon Syndrome with Acanthosis Nigricans(MIM #612247)
141
Jackson- Weiss Syndrome (MIM #123150)
142
Jacobsen Syndrome (MIM #147791)
143
Osteoglophonic Dysplasia (MIM #166250)
145
Shprintzen- Goldberg Syndrome (MIM#182212)Loeys- Dietz Syndrome, Types IA and IB (MIM#609192, MIM #610168)
147
Acknowledgements
149
References
149
Chapter 12
154
Metopic Craniosynostosis Syndrome Due toMutations in GLI3
154
Abstract
154
Case Reports
155
GLI3 Pathogenesis and Mutation Spectrum
159
Genetic Mouse Models for GLI3 Disorders
160
Conclusion and Implications
161
Acknowledgements
161
References
161
Chapter 13
163
Craniosynostosis and Chromosomal Alterations
163
Abstract
163
Chromosomal Alterations
164
Craniosynostosis Syndromes Due toChromosomal Deletions: 9p and 11q
168
Chromosomal Rearrangements and TheirContribution to the Identification ofCraniosynostotic Candidate Genes
169
Submicroscopic Rearrangements:An Important Cause of Craniosynostosis?
170
Conclusions
170
References
171
Chapter 14
176
Nonsyndromic Craniosynostoses
176
Abstract
176
Scaphocephaly
177
Trigonocephaly
179
Anterior Plagiocephaly
180
Brachycephaly
181
Posterior Plagiocephaly
182
Bisutural Synostosis
183
Oxycephaly
184
Acknowledgements
185
References
185
Chapter 15
188
Molecular Genetic Testing of Patients withCraniosynostosis
188
Abstract
188
First Step: Clinical Evaluation
189
Second Step: Genetic Workup ofCraniosynostosis
189
Third Step: Interpretation of Test Results andGenetic Counseling
192
References
194
Chapter 16
195
Prenatal Sonographic Diagnosis ofCraniosynostosis
195
Abstract
195
Ultrasound Examination of the Normal FetalSkull
195
Ultrasound in Craniosynostosis
197
Conclusion
209
References
209
Chapter 17
210
Clinical Approach to Craniosynostosis
210
Abstract
210
Abnormal Head Shape in the Absence ofCraniosynostosis
210
Abnormal Head Shape Due toCraniosynostosis
211
Imaging Studies to Confirm Synostosis
213
Underlying Etiology Varies by Affected Sutureor Sutures
214
Clinical Evaluation: Family History
215
Clinical Evaluation: Past Medical History
215
Clinical Evaluation: Physical Examination
217
Evaluation of Specific Organ Systems andTheir Function: Central Nervous System andNeurodevelopment
219
Evaluation of Specific Organ Systems andTheir Function: OphthalmologicConsiderations
221
Evaluation of Specific Organ Systems andTheir Function: OtolaryngologicConsiderations
221
Evaluation of Specific Organ Systems andTheir Function: Growth and Feeding
222
Evaluation of Specific Organ Systems andTheir Function: Internal Organs
222
Evaluation of Specific Organ Systems andTheir Function: MusculoskeletalConsiderations
222
Differential Diagnosis and Laboratory Testing
223
Multidisciplinary Treatment Approach
224
References
224
Chapter 18
227
Imaging Studies and Neurosurgical Treatment
227
Abstract
227
Technical Aids of Examination
227
Principles of Treatment
233
Surgical Risks
235
Postoperative Surveillance and Strategies
237
Management of Specific Types ofCraniosynostosis
238
References
241
Chapter 19
243
Maxillofacial Examination and Treatment
243
Abstract
243
Development of the Midface
243
Abnormalities of the Viscerocranium inCraniosynostosis
244
Principles of Maxillofacial Treatment inPatients with Craniosynostosis
246
References
253
Author Index
255
Subject Index
256
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