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Craniosynostoses Molecular Genetics, Principles of Diagnosis, and Treatment.

:	Schmid, M. Schmid, Kress, W. Kress, Collmann, H. Collmann, Solomon, B.D. Solomon
:	Craniosynostoses Molecular Genetics, Principles of Diagnosis, and Treatment.
:	Karger
:	9783805595957
:	1
:	CHF 387.40
:

:	Klinische Fächer
:	English

:	250
:	DRM
:	PC/MAC/eReader/Tablet
:	PDF/ePUB

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.

	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