Emery and Rimoin's Essential Medical Genetics
- 1st Edition - June 4, 2013
- Latest edition
- Editors: David L. Rimoin, Reed E. Pyeritz, Bruce Korf
- Language: English
For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be int… Read more
For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. Developed in parallel to the sixth edition, and featuring 174 original contributions from the many authors of the full set, this one volume work expertly condenses and synthesizes the most clinically relevant content, for convenient desk reference.
Helping to bridge the gap between high-level molecular genetics and individual application, it follows the multi-volume set in encompassing scientific fundamentals, full spectrum discussion of major inherited disorders, and actionable therapies. Clinically oriented information is supported by concise descriptions of the principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease.
This print volume is complemented and enhanced with online access to the complete text, online-only references, and high quality illustrations on www.expertconsult.com.
Helping to bridge the gap between high-level molecular genetics and individual application, it follows the multi-volume set in encompassing scientific fundamentals, full spectrum discussion of major inherited disorders, and actionable therapies. Clinically oriented information is supported by concise descriptions of the principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease.
This print volume is complemented and enhanced with online access to the complete text, online-only references, and high quality illustrations on www.expertconsult.com.
- Features 174 summarized contributions concisely discussing advances in cancer genetics, genomic technologies, and molecular genetics
- Contains hundreds of full colour illustrations supporting users with identification, concept illustration, and method processing
- Enhanced with full text online access, high quality illustrations, and online-only references at www.expertconsult.com
Medical genetics practitioners and researchers in related areas
Preface
Foreword
Personal Memories of David Rimoin
Basic Principles
Chapter 1. History of Medical Genetics
1.1 A Timeline for Medical Genetics (PSH)
Further Reading
Chapter 2. Medicine in a Genetic Context
Further Reading
Chapter 3. Nature and Frequency of Genetic Disease
3.1 Chromosomal Disorders
3.2 Single-Gene Disorders
3.3 Multifactorial Disorders
3.4 Somatic Cell Genetic Disorders
References
Chapter 4. Genomics and Proteomics
Chapter 5. Genome and Gene Structure
Chapter 6. Epigenetics
Further Reading
Chapter 7. Human Gene Mutation in Inherited Disease: Molecular Mechanisms and Clinical Consequences
Chapter 8. Genes in Families
8.1 Introduction
8.2 Autosomal Dominant Inheritance
8.3 Autosomal Recessive Inheritance
8.4 Sex-Linked Inheritance
8.5 X-Linked Recessive Inheritance
8.6 X-Linked Dominant Inheritance
8.7 Y-Linked (Holandric) Inheritance
Chapter 9. Analysis of Genetic Linkage
Further Reading
Chapter 10. Chromosomal Basis of Inheritance
Chapter 11. Mitochondrial Medicine: The Mitochondrial Biology and Genetics of Metabolic and Degenerative Diseases, Cancer, and Aging
Chapter 12. Multifactorial Inheritance and Complex Diseases
References
Chapter 13. Population Genetics
Further Reading
Chapter 14. Pathogenetics of Disease
14.1 Introduction
14.2 Pathogenetics of Mendelian Disorders
14.3 Pathogenetics of Common Disorders
14.4 Conclusions
Further reading
Chapter 15. Human Developmental Genetics
15.1 Timing of Normal Human Development
15.2 The Concept of Developmental Fields and Field Defects
15.3 A Limited Repertoire of Developmental Genes and Pathways
15.4 Regulation of Gene Expression in Development
15.5 Organogenesis
15.6 Conclusion
General References
Chapter 16. Twins and Twinning
References
Chapter 17. The Molecular Biology of Cancer
Chapter 18. The Biological Basis of Aging: Implications for Medical Genetics
18.1 What is Aging?
18.2 Why Do We Age?
18.3 How Do We Age?
18.4 Progeroid Syndromes of Humans
18.5 Human Allelic Variants Homologous to Pro-longevity Genes in Model Organisms
Further Reading
Chapter 19. Pharmacogenetics and Pharmacogenomics
Further Reading
General Principles
Chapter 20. Genetic Evaluation for Common Diseases of Adulthood
References
Chapter 21. Genetic Counseling and Clinical Risk Assessment
Reference
Further Reading
Chapter 22. Cytogenetic Analysis
Chapter 23. Diagnostic Molecular Genetics
Further Reading
Chapter 24. Heterozygote Testing and Carrier Screening
Further Reading
Helpful Websites
Chapter 25. Prenatal Screening for Neural Tube Defects and Aneuploidy
25.1 Screening for and Diagnosis of Neural Tube Defects
25.2 Prenatal Screening for Aneuploidy
25.3 Maternal Serum Screening
25.4 Ultrasound Screening for Aneuploidy
Further Reading
Chapter 26. Techniques for Prenatal Diagnosis
26.1 Introduction
26.2 Amniocentesis
26.3 Chorionic Villus Sampling
26.4 Fetal Blood Sampling
26.5 Fetal Tissue Sampling
26.6 Summary
Further Reading
Chapter 27. Neonatal Screening
Chapter 28. Enzyme Replacement and Pharmacologic Chaperone Therapies for Lysomal Storage Disease
Chapter 29. Gene Therapy: From Theoretical Potential to Clinical Implementation
Chapter 30. Ethical and Social Issues in Clinical Genetics
30.1 Goals and Outcomes of Genetic Services
30.2 Diagnostic Genetic Tests
30.3 Predictive Genetic Tests
30.4 Population Screening
30.5 Newborn Screening
30.6 Antenatal Screening
30.7 Free Fetal DNA and NonInvasive Prenatal Diagnosis
30.8 Genomic Carrier Screening for Carriers of Autosomal Recessive Disorders
30.9 Cross-Cultural Genetic Counseling
30.10 Labeling and Naming of Syndromes
30.11 Duty to Recontact
30.12 Genomic Screening for Common Complex Diseases
30.13 Research
Further Reading
Chapter 31. Legal Issues in Genetic Medicine
Further Reading
Applications to Clinical Problems
Chapter 32. Genetics of Female Infertility in Humans
32.1 Hypogonadotropic Hypogonadism
32.2 Hypergonadotropic Hypogonadism
32.3 Eugonadal Causes of Infertility
32.4 Conclusion
Further Reading
Chapter 33. Genetics of Male Infertility
33.1 Chromosome Anomalies
33.2 Gene Defects Involved in Endocrine Forms of Infertility
33.3 Monogenic Defects in Post-Testicular and Primary Testicular Forms of Male Infertility
33.4 Syndromic Monogenic Defects
33.5 Conclusion
Further Reading
Chapter 34. Fetal Loss
Further Reading
Chapter 35. A Clinical Approach to the Dysmorphic Child
Further Reading
Chapter 36. Clinical Teratology
Further Reading
Chapter 37. Neurodevelopmental Disabilities: Global Developmental Delay, Intellectual Disability, and Autism
Further Reading
Chapter 38. Abnormal Body Size and Proportion
Summary References
Chapter 39. Susceptibility and Response to Infection
Further Reading
Chapter 40. Transplantation Genetics
References
Chapter 41. The Genetics of Disorders Affecting the Premature Newborn
41.1 Respiratory Distress Syndrome
41.2 Bronchopulmonary Dysplasia
41.3 Patent Ductus Arteriosus
41.4 Intraventricular Hemorrhage
41.5 Retinopathy of Prematurity
41.6 Necrotizing Enterocolitis
References
Chapter 42. Disorders of DNA Repair and Metabolism
42.1 Disorders of Nucleotide Excision Repair: Xeroderma Pigmentosum and Cockayne Syndrome
42.2 Disorders of Base Excision Repair: MUTYH and Colon Cancer Risk
42.3 Disorders of Mismatch Repair: Lynch Syndrome or Hereditary Non-polyposis Colon Cancer and Mismatch Repair Deficiency Syndrome (Autosomal Recessive Turcot Syndrome)
42.4 Disorders Associated with Double Strand Break Recognition and Repair: Ataxia Telangiectasia and Related Conditions
42.5 Crosslink Repair and Homologous Recombination Defects: Breast–Ovarian Cancer and Fanconi Anemia
42.6 Disorders Associated with RecQ Helicase Deficiency: Bloom, Werner and Rothmund–Thomson Syndromes
References
Applications to Specific Disorders
Chromosomal Disorders
Chapter 43. Autosomal Trisomies
Chapter 44. Sex Chromosome Abnormalities
References
Further Reading
Chapter 45. Deletions and Other Structural Abnormalities of the Autosomes
Further Reading
Cardiovascular Disorders
Chapter 46. Congenital Heart Defects
References
Chapter 47. Inherited Cardiomyopathies
47.1 Hypertrophic Cardiomyopathy
47.2 Dilated Cardiomyopathy
47.3 Arrhythmogenic Right Ventricular Dysplasia
47.4 Ventricular Noncompaction
47.5 Conclusion
References
Chapter 48. Heritable and Idiopathic Forms of Pulmonary Arterial Hypertension
Reference
Further reading
Chapter 49. Hereditary Hemorrhagic Telangiectasia (Osler–Weber–Rendu Syndrome)
49.1 Introduction
49.2 Prevalence
49.3 Phenotype and Natural History
49.4 Genetics
49.5 Pathogenesis
49.6 Diagnosis
49.7 Management
49.8 Gastrointestinal
49.9 Anemia
49.10 Counseling
49.11 Life Expectancy
Acknowledgments
Further Reading
Chapter 50. Hereditary Disorders of the Lymphatic System and Varicose Veins
50.1 Development of the Lymphatic System
50.2 Disorders of the Lymphatic System
50.3 Mendelian Disorders Affecting Both the Lymphatic and Venous System
50.4 Varicose Veins
50.5 Genetic Counseling
Further Reading
Chapter 51. The Genetics of Cardiac Electrophysiology in Humans
51.1 Introduction
51.2 Familial Forms of Conduction Disturbance and Dysrhythmia
51.3 Personalized Management of Disorders of Cardiac Electrophysiology
51.4 Conclusions
Further Reading
Chapter 52. Genetics of Blood Pressure Regulation
52.1 Introduction
52.2 Mendelian and Other Forms of Hypertension
52.3 Mendelian and Other Forms of Hypotension
52.4 Essential Hypertension
52.5 Personalized Management of Dysregulated Blood Pressure
52.6 Conclusions
Further Reading
Chapter 53. Preeclampsia
Further Reading
Chapter 54. Common Genetic Determinants of Coagulation and Fibrinolysis
54.1 The Coagulation Cascade
54.2 Natural Anticoagulants
54.3 The Fibrinolytic Cascade
54.4 Platelet Function and Platelet Glycoprotein Receptor Variants
54.5 GWAS for Venous and Arterial Thrombosis
54.6 Conclusions
Further Reading
Chapter 55. Genetics of Atherosclerotic Cardiovascular Disease
Further Reading
Chapter 56. Disorders of the Venous System
56.1 Introduction
56.2 Glomuvenous Malformation
56.3 Inherited Venous Malformation
56.4 Sporadic Venous Malformation
56.5 Hyperkeratotic Cutaneous Capillarovenous Malformation
56.6 Other VM-Associated Syndromes
56.7 Conclusion
Acknowledgments
Further Reading
Chapter 57. Capillary Malformation/Arteriovenous Malformation
57.1 Introduction
57.2 Capillary Malformation—Arteriovenous Malformation
Acknowledgments
Further Reading
Respiratory Disorders
Chapter 58. Cystic Fibrosis
Further Reading
Chapter 59. Genetic Underpinnings of Asthma and Related Traits
Further Reading
Chapter 60. Hereditary Pulmonary Emphysema
References
Chapter 61. Interstitial and Restrictive Pulmonary Disorders
Further Reading
Renal Disorders
Chapter 62. Congenital Anomalies of the Kidney and Urinary Tract
62.1 Errors of Organogenesis
62.2 Error of Migration and Position
62.3 Errors Resulting in Obstruction
References
Chapter 63. Cystic Diseases of the Kidney
Further Reading
Chapter 64. Nephrotic Disorders
64.1 NS in Newborns and Children
64.2 NS in Adolescents and Adults
64.3 NS Diagnostics and Management
Chapter 65. Renal Tubular Disorders
65.1 Generalized Disorders of Tubular Function (Fanconi Syndrome)
65.2 Renal Tubular Acidosis
65.3 Conclusion
Further Reading
Chapter 66. Cancer of the Kidney and Urogenital Tract
66.1 Tumors of the Kidney
66.2 Tumors of the Bladder
66.3 Carcinoma of the Prostate
66.4 Testicular Neoplasms
References
Gastrointestinal Disorders
Chapter 67. Gastrointestinal Tract and Hepatobiliary Duct System
Further Reading
Chapter 68. Bile Pigment Metabolism and Its Disorders
References
Chapter 69. Cancer of the Colon and Gastrointestinal Tract
69.1 Familial Gastrointestinal Cancer Syndromes
Further Reading
Hematologic Disorders
Chapter 70. Hemoglobinopathies and Thalassemias
Further Reading
Relevant Web Pages
Chapter 71. Other Hereditary Red Blood Cell Disorders
71.1 RBC Enzyme Disorders
71.2 RBC Membrane Disorders
71.3 Congenital Bone Marrow Failure Syndromes
71.4 Megaloblastic Anemias
71.5 Dyserythropoietic Anemias
71.6 Sideroblastic Anemias
References
Chapter 72. Hemophilias and Other Disorders of Hemostasis
72.1 Inherited Disorders Of The Coagulation Cascade
72.2 Hemophilias
72.3 von Willebrand Disease
72.4 Other Factor Deficiencies
72.5 Defects in Other Coagulation Cascade Proteins
72.6 Platelet Disorders
72.7 Inherited Disorders Predisposing to Thrombosis
Further Reading
Chapter 73. Rhesus and Other Fetomaternal Incompatibilities
73.1 Etiology of Alloimmunization
73.2 Detection of Fetomaternal Hemorrhage
73.3 Rh Blood Group System
73.4 Molecular Basis of Rh Antigens
73.5 Prenatal Rh Genotyping
73.6 Noninvasive Prenatal Diagnosis
73.7 Alloimmune Thrombocytopenia
73.8 Management and Prevention of Alloimmunization
73.9 Treatment
Further reading
Chapter 74. Leukemias, Lymphomas, and Other Related Disorders
Further Reading
Chapter 75. Immunologic Disorders: Autoimmunity: Genetics and Immunologic Mechanisms
Chapter 76. Systemic Lupus Erythematosus
Further Reading
Chapter 77. Rheumatoid Disease and Other Inflammatory Arthropathies
References
Chapter 78. Amyloidosis and Other Protein Deposition Diseases
78.1 DNA Diagnosis
78.2 Treatment of Hereditary Amyloidosis
References
Chapter 79. Immunodeficiency Disorders
Reference
Further Reading
Chapter 80. Inherited Complement Deficiencies
80.1 Clinical Aspects of Complement Deficiencies
80.2 Genetics
80.3 Diagnosis
Further Reading
Endocrinologic Disorders
Chapter 81. Disorders of Leukocyte Function
81.1 Neutrophil Number Disorders
81.2 Leukocyte Adhesion Deficiencies
81.3 Disorders of Granulocyte Chemotaxis
81.4 Disorders of Microbicidal Activity
81.5 Monocyte/Macrophage Function Disorders
References
Chapter 82. Genetic Disorders of the Pituitary Gland
82.1 Introduction
82.2 Anterior Pituitary
82.3 Posterior Pituitary: Genetic Disorders Of AVP Deficiency
References
Chapter 83. Thyroid Disorders
83.1 Hypothalamic-Pituitary Congenital Hypothyroidism
83.2 Thyroidal Congenital Hypothyroidism
83.3 Disorders of Thyroid Hormone Transport Proteins, Membrane Transporters and Thyroid Hormone Action
83.4 Genetic Hyperthyroidism
83.5 Thyroid Disease Associated with Chromosomal Disorders and Contigous Gene Deletion Syndromes
83.6 Genetic Basis of Autoimmune Thyroid Disease
83.7 Genetic Basis Of Thyroid Carcinoma
References
Chapter 84. Parathyroid Disorders
Further Reading
Chapter 85. Diabetes Mellitus
85.1 Introduction
85.2 Type 1 Diabetes Mellitus
85.3 Type 2 Diabetes Mellitus
References
Chapter 86. Genetic Disorders of the Adrenal Gland
Further Reading
Chapter 87. Disorders of the Gonads, Genital Tract, and Genitalia
87.1 46,XX Sex Reversal (XX Males)
87.2 XY Sex Reversal (46,XY Females)
87.3 46,XY DSD (Male Psudohermaphroditism)
87.4 Ovotesticular DSD (True Hermaphroditism)
87.5 46,XX Ovarian Dysgenesis/Premature Ovarian Failure (POF)
87.6 Internal Genital Duct Anomalies (Müllerian Or Wolffian)
Further Reading
Chapter 88. Cancer of the Breast and Female Reproductive Tract
Metabolic Disorders
Chapter 89. Disorders of the Body Mass
Suggested Reading
Chapter 90. Genetic Lipodystrophies
Chapter 91. Amino Acid Metabolism
Further Reading
Chapter 92. Disorders of Carbohydrate Metabolism
References
Chapter 93. Congenital Disorders of Protein Glycosylation
Chapter 94. Purine and Pyrimidine Metabolism
Chapter 95. Lipoprotein and Lipid Metabolism
References
Chapter 96. Organic Acidemias and Disorders of Fatty Acid Oxidation
References
Chapter 97. Vitamin D Metabolism or Action
97.1 History
97.2 Normal Physiology of Calciferols
97.3 Transcriptional and Nongenomic Effects of 1,25(OH)2D
97.4 Hereditary Vitamin D–Dependent Rickets Types 1 and 2
97.5 Calciferol Excess State
References
Chapter 98. Inherited Porphyrias
Further Reading
Chapter 99. Inherited Disorders of Human Copper Metabolism
Chapter 100. Iron Metabolism and Related Disorders
100.1 Introduction
100.2 Clinical Conditions
References
Chapter 101. Mucopolysaccharidoses
Further Reading
Chapter 102. Oligosaccharidoses: Disorders Allied to the Oligosaccharidoses
102.1 Oligosaccharidoses
102.2 Disorders Allied to the Oligosaccharidoses
Chapter 103. Sphingolipid Disorders and the Neuronal Ceroid Lipofuscinoses or Batten Disease (Wolman Disease, Cholesterylester Storage Disease, and Cerebrotendinous Xanthomatosis)
103.1 Loss of Function Mutation of GM3-Synthase
103.2 Niemann–Pick Disease
103.3 Acid Lipase Deficiency (Wolman Disease And Cholesteryl Ester Storage Disease)
103.4 Gaucher Disease
103.5 Galactosylceramide Lipidosis, Globoid Cell Leukodystrophy, or Krabbe Disease: Introduction
103.6 Major Batten/Neuronal Ceroid Lipofuscinosis Syndromes
Chapter 104. Peroxisomal Disorders
Mental and Behavioral Disorders
Chapter 105. The Genetics of Personality
Chapter 106. Fragile X Syndrome and X-Linked Intellectual Disability
106.1 Fragile X Syndrome
106.2 Other Forms of XLID
Further Reading
Chapter 107. Dyslexia and Related Communication Disorders
Websites
Chapter 108. Attention-Deficit/Hyperactivity Disorder
108.1 Behavioral Genetics
108.2 Molecular Genetics
108.3 Conclusions
References
Chapter 109. Autism Spectrum Disorders
References
Chapter 110. Genetics of Alzheimer Disease
Further Reading
Chapter 111. Schizophrenia and Affective Disorders
References
Chapter 112. Addictive Disorders
Further Reading
Neurologic Disorders
Chapter 113. Neural Tube Defects
113.1 Embryology
113.2 Definition
113.3 Risk Factors
113.4 Diagnosis, Treatment, and Outcome
References
Chapter 114. Genetic Disorders of Cerebral Cortical Development
References
Chapter 115. Genetic Aspects of Human Epilepsy
References
Chapter 116. Basal Ganglia Disorders
Further Reading
Chapter 117. The Hereditary Ataxias
Websites
Chapter 118. Hereditary Spastic Paraplegia
118.1 Clinical Overview
118.2 Genetic Heterogeneity
118.3 Neuropathology
118.4 Molecular Basis
118.5 Treatment
References
Chapter 119. Autonomic and Sensory Disorders
119.1 Familial Dysautonomia (Riley–Day Syndrome or HSAN Type III)
119.2 Congenital Sensory Neuropathy with Anhidrosis (HSAN Type IV)
References
Chapter 120. The Phakomatoses
Further Reading
Chapter 121. Multiple Sclerosis and Other Demyelinating Disorders
121.1 Practical Applications of Genetic Studies
References
Chapter 122. Genetics of Stroke
122.1 Introduction
122.2 Genetics and Stroke Risk
122.3 Monogenic Disorders Causing Stroke
122.4 Genome-Wide Association Studies and Genomics
122.5 Summary
References
Chapter 123. Primary Tumors of the Nervous System
Neuromuscular Disorders
Chapter 124. Muscular Dystrophies
References
Chapter 125. Hereditary Motor and Sensory Neuropathies
Chapter 126. Congenital (Structural) Myopathies
Further Reading
Chapter 127. Spinal Muscular Atrophies
127.1 Diagnosis
127.2 Proximal SMA and Variants
127.3 Distal SMA
127.4 Therapy and Future Prospects
References
Chapter 128. Hereditary Muscle Channelopathies
Further Reading
Chapter 129. The Myotonic Dystrophies
References
Chapter 130. Hereditary and Autoimmune Myasthenias
130.1 Congenital Myasthenic Syndromes
130.2 Acquired Myasthenias
References
Chapter 131. Motor Neuron Disease
Ophthalmologic Disorders
Chapter 132. Genetics of Color Vision Defects
132.1 Introduction
132.2 Red–Green Color Vision Defects
Further Reading
Internet Review
Websites
References
Chapter 133. Optic Atrophy
References
Chapter 134. Glaucoma
134.1 Clinical Features of Heritable Forms of Glaucoma
134.2 Identification of Glaucoma Genes Using Linkage Analysis
134.3 Genes Causing Glaucoma in Animal Models
134.4 Identification of Glaucoma Genes Using Genomic Approaches
Further Reading
Chapter 135. Defects of the Cornea
References
Chapter 136. Congenital Cataracts and Genetic Anomalies of the Lens
Further Reading
Chapter 137. Hereditary Retinal and Choroidal Dystrophies
Chapter 138. Strabismus
Chapter 139. Retinoblastoma and the RB1 Cancer Syndrome
139.1 Two Hit Hypothesis
139.2 The RB1 Cancer Syndrome
139.3 Clinical Features
139.4 Classification of Retinoblastoma
139.5 Treatment Of Intraocular Retinoblastoma
139.6 Testing Issues
References
Chapter 140. Anophthalmia, Microphthalmia, and Uveal Coloboma
References
Deafness
Chapter 141. Hereditary Hearing Impairment
Further Reading
Useful Websites
Craniofacial Disorders
Chapter 142. Clefting, Dental, and Craniofacial Syndromes
Further Reading
Chapter 143. Craniosynostosis
Further Reading
Dermatologic Disorders
Chapter 144. Abnormalities of Pigmentation
144.1 Disorders of Melanocyte Development, Differentiation, and/or Migration
144.2 Disorders of Melanocyte Function
144.3 Disorders of Melanocyte Survival
References
Chapter 145. Ichthyosiform Dermatoses
Further Reading
Chapter 146. Epidermolysis Bullosa
References
Chapter 147. Ectodermal Dysplasias
References
Chapter 148. Skin Cancer
References
Chapter 149. Psoriasis
Chapter 150. Cutaneous Hamartoneoplastic Disorders
150.1 Hereditary Leiomyomatosis and Renal Cancer
150.2 Birt Hogg Dubé Syndrome
Chapter 151. Inherited Disorders of the Hair
Connective Tissue Disorders
Chapter 152. Marfan Syndrome and Related Disorders
152.1 Marfan syndrome (omim 154 700)
Acknowledgments
Further Reading
Chapter 153. Ehlers–Danlos Syndrome
153.1 Types of EDS
153.2 Concluding Remarks
Acknowledgments
Further Reading
Chapter 154. Heritable Diseases Affecting the Elastic Fibers: Cutis Laxa, Pseudoxanthoma Elasticum, and Related Disorders
Further Reading
Skeletal Disorders
Chapter 155. Osteogenesis Imperfecta (and Other Disorders of Bone Matrix)
Further Reading
Chapter 156. Disorders of Bone Density, Volume, and Mineralization
Further Reading
Chapter 157. Chondrodysplasias
Further Reading
Chapter 158. Abnormalities of Bone Structure
Chapter 159. Arthrogryposes (Multiple Congenital Contractures)
Relevant Websites
Chapter 160. Common Skeletal Deformities
Further Reading
Chapter 161. Hereditary Noninflammatory Arthropathies
161.1 Introduction
161.2 Spondyloepiphyseal Dysplasias
161.3 Familial Osteoarthropathy
161.4 Primary Osteoarthropathy of the Hip
161.5 Mseleni Joint Disease
References
Pathways
Chapter 162. Pathways—Cohesinopathies
162.1 Cornelia de Lange Syndrome
162.2 Cohesin Biology
162.3 Other Disorders of Cohesin and Sister Chromatid Cohesion
Further Reading
Chapter 163. Genes and Mechanisms in Human Ciliopathies
Index
- Edition: 1
- Latest edition
- Published: June 4, 2013
- Language: English
DR
David L. Rimoin
Affiliations and expertise
Medical Genetics Institute, Los Angeles, CA, USARP
Reed E. Pyeritz
Dr. Reed Pyeritz is a medical genetics doctor in Philadelphia, Pennsylvania and is affiliated with Hospitals of the University of Pennsylvania-Penn Presbyterian. Dr. Pyeritz focuses his research in two areas – Mendelian disorders of the cardiovascular system (especially those involving defects of connective tissue) and ethical, legal and social implications of human genetics. He is continuing his studies, begun over 20 years ago, of Marfan syndrome and related conditions – diseases in which the aorta and occasionally major arterial branches gradually enlarge and dissect, leading to early demise if untreated. Current efforts include a multicenter trial of angiotensin receptor blockade in Marfan syndrome, the identification of additional genes that predispose to arteriopathy, and improving methods for diagnosing and treating arterio-venous malformations, especially in hereditary hemorrhagic telangiectasia (HHT). Dr. Pyeritz directs Penn CIGHT (Center for the Integration of Genetic Healthcare Technologies). Supported by the ELSI Branch of the National Human Genome Research Institute, Penn CIGHT conducts research in the broad area of ‘uncertainty’ as related to the introduction of evolving approaches to assaying a patient’s genotype.
Affiliations and expertise
William Smilow Professor of Medicine and Professor of Genetics, Senior Fellow, Leonard Davis Institute of Health Economics, Perelman School of Medicine, University of Pennsylvania, Smilow Center for Translational Research, Philadelphia, PA, USABK
Bruce Korf
Affiliations and expertise
University of Alabama at Birmingham, Birmingham, AL