Craniosynostoses

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