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Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics : Clinical Principles and Applications.

By: Contributor(s): Material type: TextTextPublisher: San Diego : Elsevier Science & Technology, 2018Copyright date: ©2019Edition: 7th edDescription: 1 online resource (414 pages)Content type:
  • text
Media type:
  • computer
Carrier type:
  • online resource
ISBN:
  • 9780128126844
Subject(s): Genre/Form: Additional physical formats: Print version:: Emery and Rimoin's Principles and Practice of Medical Genetics and GenomicsDDC classification:
  • 616.042
LOC classification:
  • GN69.8 .E447 2019
Online resources:
Contents:
Front Cover -- EMERY AND RIMOIN'S PRINCIPLES AND PRACTICE OF MEDICAL GENETICS AND GENOMICS -- EMERY AND RIMOIN'S PRINCIPLES AND PRACTICE OF MEDICAL GENETICS AND GENOMICS -- Copyright -- CONTENTS -- LIST OF CONTRIBUTORS -- PREFACE TO THE SEVENTH EDITION OF EMERY AND RIMOIN'S PRINCIPLES AND PRACTICE OF MEDICAL GENETICS AND GENOMICS -- PREFACE TO CLINICAL PRINCIPLES AND APPLICATIONS -- 1 - A Clinical Approach to the Dysmorphic Child -- 1.1 INTRODUCTION -- 1.2 PRENATAL VERSUS POSTNATAL ONSET OF DEVELOPMENTAL PROBLEMS -- 1.3 PRENATAL-ONSET PROBLEMS IN DEVELOPMENT -- 1.3.1 Single Primary Defect in Development -- 1.3.2 Malformations -- 1.3.3 Deformations -- 1.3.3.1 Intrinsically Derived Prenatal-Onset Deformations -- 1.3.3.2 Extrinsically Derived Prenatal-Onset Deformations -- 1.3.4 Disruptive Defects -- 1.3.5 Dysplasia -- 1.3.6 Sequence -- 1.3.7 Multiple Malformation Syndromes -- 1.3.8 Chromosomal (Copy Number) Abnormalities -- 1.3.9 Disorders With Known Genetic Etiology -- 1.3.10 Disorders Caused by Teratogens -- 1.3.11 Recognized Patterns -- 1.4 POSTNATAL-ONSET PROBLEMS IN DEVELOPMENT -- 1.4.1 Genetic -- 1.4.1.1 Metabolic -- 1.4.1.2 Central Nervous System Degenerative States -- 1.4.1.3 Myopathies and Connective Tissue Disorders -- 1.4.2 Environmental Factors -- 1.5 CONCLUSION -- REFERENCES -- 2 - Clinical Teratology -- 2.1 INTRODUCTION -- 2.1.1 Overview -- 2.1.2 Mechanisms of Teratogenesis -- 2.1.3 Genetic Susceptibility to Teratogenic Effects -- 2.1.4 Characterization of Teratogenic Exposures -- 2.1.5 Risk Assessment and Counseling for Teratogenic Effects -- 2.1.5.1 Clinical Settings -- 2.1.5.2 What Is the Risk? -- 2.1.5.3 Teratogen Risk Counseling -- 2.1.5.4 Dealing With Uncertainty -- 2.2 EVALUATING THE PATIENT AND HER EXPOSURE -- 2.2.1 Evaluation of the Pregnant Patient for Teratogenic Exposures -- 2.2.2 Assessing the Scientific Literature.
2.2.2.1 Animal Studies -- 2.2.2.2 Case Reports -- 2.2.2.3 Case Series -- 2.2.2.4 Pregnancy Registries -- 2.2.2.5 Randomized Controlled Trials -- 2.2.2.6 Cohort Studies -- 2.2.2.7 Case-Control Studies -- 2.2.2.8 Record Linkage Studies -- 2.2.2.9 Ecological Studies -- 2.2.2.10 Data Synthesis -- 2.3 RECOGNIZED TERATOGENIC EXPOSURES -- 2.3.1 Infectious Agents -- 2.3.1.1 Viruses -- 2.3.1.1.1 Rubella. Abnormalities associated with prenatal infection with rubella vary substantially in frequency, severity, and ... -- 2.3.1.1.2 Cytomegalovirus. Congenital cytomegalovirus (CMV) infection has assumed a position of increasing importance in recent ... -- 2.3.1.1.3 Zika virus. ZIKV is a flavivirus, primarily transmitted through infected Aedes aegypti mosquito bites, although transm... -- 2.3.1.1.4 HIV infection and AIDS. Rates of HIV transmission from mother to fetus range from 15% to 30% in studies from the Unite... -- 2.3.1.1.5 Parvovirus B19. Parvovirus infection causes fifth disease (erythema infectiosum) in children. Infections in adults may... -- 2.3.1.2 Bacteria -- 2.3.1.2.1 Syphilis. Congenital syphilis is certainly the oldest if not the most venerable of the known prenatal teratogenic infe... -- 2.3.1.3 Parasites -- 2.3.1.3.1 Toxoplasmosis. The major risk to the fetus arises from primary toxoplasmosis infections during pregnancy. The frequenc... -- 2.3.2 Physical Agents -- 2.3.2.1 Ionizing Radiation -- 2.3.2.2 Heat -- 2.3.2.3 Mechanical Factors -- 2.3.2.3.1 Constraint. Fetal growth or movement may be constrained by a variety of mechanical factors, including uterine malforma... -- 2.3.2.3.2 Early invasive prenatal diagnosis. Evidence that the mechanical trauma associated with early chorionic villus sampling... -- 2.3.3 Drug and Chemical Agents -- 2.3.3.1 Environmental Agents.
2.3.3.1.1 Organic mercury compounds. Ingestion by a pregnant woman of food that is heavily contaminated with methylmercury can c... -- 2.3.3.1.2 Other environmental chemicals. Many natural and man-made chemicals have been shown to function as "endocrine disrupter... -- 2.3.3.2 "Recreational" Drugs -- 2.3.3.2.1 Ethyl alcohol. Maternal ethanol consumption during pregnancy can result in a wide spectrum of effects on the embryo an... -- 2.3.3.2.2 Tobacco smoking. Maternal smoking during pregnancy interferes with fetal growth [149,150]. Birth weight and length and... -- 2.3.3.2.3 Cocaine. The extensive medical literature on the effects of maternal cocaine use in pregnancy is difficult to interpre... -- 2.3.3.2.4 Caffeine. While caffeine is teratogenic in high doses in some species, no convincing evidence linking this substance t... -- 2.3.3.3 Nonprescription Drugs -- 2.3.3.3.1 Salicylates and other anti-inflammatory drugs. Although aspirin and other salicylate compounds are believed to be amon... -- 2.3.3.4 Prescription Drugs -- 2.3.3.4.1 Thalidomide. The most dramatic epidemic of drug-induced birth defects ever recognized occurred in the early 1960s when... -- 2.3.3.4.2 Folic acid antagonists -- 2.3.3.4.2.1 Aminopterin and methotrexate. An unusual and characteristic pattern of congenital anomalies has been reported in mor... -- 2.3.3.4.2.2 Trimethoprim and other weak folic acid antagonists. An increased frequency of birth defects has been observed among ... -- 2.3.3.4.3 Anticancer agents. As the therapeutic efficacy of many antineoplastic agents is dependent on their ability to kill or ... -- 2.3.3.4.4 Warfarin anticoagulants. A very uncommon and striking pattern of congenital anomalies has been reported repeatedly amo... -- 2.3.3.4.5 Antibiotics and other anti-infective agents. Available studies have generally not revealed an increased risk to the fe.
2.3.3.4.5.1 Tetracyclines. Maternal treatment with tetracyclines during the second and third trimesters of pregnancy produces st... -- 2.3.3.4.5.2 Aminoglycosides. There is no indication that the risk of malformations in children of women treated with aminoglycos... -- 2.3.3.4.5.3 Quinine and related antimalarial agents. Maternal use of very high doses of quinine in an attempt to induce abortion... -- 2.3.3.4.5.4 Fluconazole. A few children have been described with a very unusual pattern of congenital anomalies whose mothers we... -- 2.3.3.4.6 Anticonvulsants. About 2% of women take anticonvulsant medications during pregnancy [225]. Treatment of pregnant women... -- 2.3.3.4.6.1 Valproic acid. A characteristic pattern of craniofacial and other anomalies has been observed in up to half of child... -- 2.3.3.4.6.2 Carbamazepine. A fetal anticonvulsant syndrome has also been observed among the children of epileptic women who were... -- 2.3.3.4.6.3 Other anticonvulsant agents. Phenobarbital is not often used as an anticonvulsant in adults, but primidone, which is... -- 2.3.3.4.7 Endocrine agents. A number of reports have suggested possible teratogenic effects of treatment with endocrine agents. ... -- 2.3.3.4.7.1 Female sex hormones. Diethylstibestrol. Diethylstilbestrol (DES) was widely used in the 1950s as a treatment for thr... -- 2.3.3.4.7.2 Other endocrine-active agents. Clomiphene. Induction of ovulation with clomiphene has been associated with an increa... -- 2.3.3.4.8 Retinoids and vitamin A. Preformed retinoids, including retinol, retinaldehyde, and retinoic acid, possess vitamin A a... -- 2.3.3.4.9 Lithium carbonate. Children of women who are treated with lithium during pregnancy appear to have an increased risk of.
2.3.3.4.10 Selective serotonin reuptake inhibitors. Selective serotonin reuptake inhibitors (SSRIs) are very widely used as anti... -- 2.3.3.4.11 Codeine and other opioid analgesics. A small increase in the frequency of congenital heart defects has been observed ... -- 2.3.3.4.12 Misoprostol. Misoprostol is a prostaglandin analogue that is used in the prevention and treatment of peptic ulcer dis... -- 2.3.3.4.13 Mycophenolate mofetil. An unusual pattern of malformations has been repeatedly observed among children whose mothers ... -- 2.3.3.4.14 Inhibitors of the renin-angiotensin system -- 2.3.3.4.14.1 ACE inhibitors. Neonatal renal failure and hypotension as well as fetal anuria resulting in oligohydramnios, joint ... -- 2.3.3.4.14.2 Angiotensin II receptor inhibitors. Losartan, candesartan, valsartan, and other antihypertensive drugs of the "sart... -- 2.3.3.4.15 Methylene blue. Up to 20% of twins born after genetic amniocentesis in which methylene blue was used as a marker deve... -- 2.3.3.4.16 Bendectin (Diclectin). A fixed combination of pyridoxine (vitamin B6) and doxylamine (an antihistamine), marketed in ... -- 2.3.3.5 Maternal Metabolic Factors -- 2.3.3.5.1 Inadequate folic acid intake. The recognition that the risk of many malformations, including neural tube defects, can ... -- 2.3.3.5.2 Diabetes mellitus. The principal maternal metabolic disorder that raises concern for the developing fetus is type 1 di... -- 2.3.3.5.3 Phenylketonuria. From 75% to 90% of children of women with phenylketonuria (PKU) who are not adequately treated during... -- 2.3.3.5.4 Obesity. Obesity is usually defined in relationship to height as the body mass index [BMI=weight in kg/(height in m)2]... -- 2.3.3.6 Autoimmune and Isoimmune Disease -- 2.4 PATERNAL EXPOSURES AND MATERNAL EXPOSURES BEFORE OR SHORTLY AFTER CONCEPTION -- 2.5 FUTURE PERSPECTIVE.
2.6 CONCLUSION.
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Front Cover -- EMERY AND RIMOIN'S PRINCIPLES AND PRACTICE OF MEDICAL GENETICS AND GENOMICS -- EMERY AND RIMOIN'S PRINCIPLES AND PRACTICE OF MEDICAL GENETICS AND GENOMICS -- Copyright -- CONTENTS -- LIST OF CONTRIBUTORS -- PREFACE TO THE SEVENTH EDITION OF EMERY AND RIMOIN'S PRINCIPLES AND PRACTICE OF MEDICAL GENETICS AND GENOMICS -- PREFACE TO CLINICAL PRINCIPLES AND APPLICATIONS -- 1 - A Clinical Approach to the Dysmorphic Child -- 1.1 INTRODUCTION -- 1.2 PRENATAL VERSUS POSTNATAL ONSET OF DEVELOPMENTAL PROBLEMS -- 1.3 PRENATAL-ONSET PROBLEMS IN DEVELOPMENT -- 1.3.1 Single Primary Defect in Development -- 1.3.2 Malformations -- 1.3.3 Deformations -- 1.3.3.1 Intrinsically Derived Prenatal-Onset Deformations -- 1.3.3.2 Extrinsically Derived Prenatal-Onset Deformations -- 1.3.4 Disruptive Defects -- 1.3.5 Dysplasia -- 1.3.6 Sequence -- 1.3.7 Multiple Malformation Syndromes -- 1.3.8 Chromosomal (Copy Number) Abnormalities -- 1.3.9 Disorders With Known Genetic Etiology -- 1.3.10 Disorders Caused by Teratogens -- 1.3.11 Recognized Patterns -- 1.4 POSTNATAL-ONSET PROBLEMS IN DEVELOPMENT -- 1.4.1 Genetic -- 1.4.1.1 Metabolic -- 1.4.1.2 Central Nervous System Degenerative States -- 1.4.1.3 Myopathies and Connective Tissue Disorders -- 1.4.2 Environmental Factors -- 1.5 CONCLUSION -- REFERENCES -- 2 - Clinical Teratology -- 2.1 INTRODUCTION -- 2.1.1 Overview -- 2.1.2 Mechanisms of Teratogenesis -- 2.1.3 Genetic Susceptibility to Teratogenic Effects -- 2.1.4 Characterization of Teratogenic Exposures -- 2.1.5 Risk Assessment and Counseling for Teratogenic Effects -- 2.1.5.1 Clinical Settings -- 2.1.5.2 What Is the Risk? -- 2.1.5.3 Teratogen Risk Counseling -- 2.1.5.4 Dealing With Uncertainty -- 2.2 EVALUATING THE PATIENT AND HER EXPOSURE -- 2.2.1 Evaluation of the Pregnant Patient for Teratogenic Exposures -- 2.2.2 Assessing the Scientific Literature.

2.2.2.1 Animal Studies -- 2.2.2.2 Case Reports -- 2.2.2.3 Case Series -- 2.2.2.4 Pregnancy Registries -- 2.2.2.5 Randomized Controlled Trials -- 2.2.2.6 Cohort Studies -- 2.2.2.7 Case-Control Studies -- 2.2.2.8 Record Linkage Studies -- 2.2.2.9 Ecological Studies -- 2.2.2.10 Data Synthesis -- 2.3 RECOGNIZED TERATOGENIC EXPOSURES -- 2.3.1 Infectious Agents -- 2.3.1.1 Viruses -- 2.3.1.1.1 Rubella. Abnormalities associated with prenatal infection with rubella vary substantially in frequency, severity, and ... -- 2.3.1.1.2 Cytomegalovirus. Congenital cytomegalovirus (CMV) infection has assumed a position of increasing importance in recent ... -- 2.3.1.1.3 Zika virus. ZIKV is a flavivirus, primarily transmitted through infected Aedes aegypti mosquito bites, although transm... -- 2.3.1.1.4 HIV infection and AIDS. Rates of HIV transmission from mother to fetus range from 15% to 30% in studies from the Unite... -- 2.3.1.1.5 Parvovirus B19. Parvovirus infection causes fifth disease (erythema infectiosum) in children. Infections in adults may... -- 2.3.1.2 Bacteria -- 2.3.1.2.1 Syphilis. Congenital syphilis is certainly the oldest if not the most venerable of the known prenatal teratogenic infe... -- 2.3.1.3 Parasites -- 2.3.1.3.1 Toxoplasmosis. The major risk to the fetus arises from primary toxoplasmosis infections during pregnancy. The frequenc... -- 2.3.2 Physical Agents -- 2.3.2.1 Ionizing Radiation -- 2.3.2.2 Heat -- 2.3.2.3 Mechanical Factors -- 2.3.2.3.1 Constraint. Fetal growth or movement may be constrained by a variety of mechanical factors, including uterine malforma... -- 2.3.2.3.2 Early invasive prenatal diagnosis. Evidence that the mechanical trauma associated with early chorionic villus sampling... -- 2.3.3 Drug and Chemical Agents -- 2.3.3.1 Environmental Agents.

2.3.3.1.1 Organic mercury compounds. Ingestion by a pregnant woman of food that is heavily contaminated with methylmercury can c... -- 2.3.3.1.2 Other environmental chemicals. Many natural and man-made chemicals have been shown to function as "endocrine disrupter... -- 2.3.3.2 "Recreational" Drugs -- 2.3.3.2.1 Ethyl alcohol. Maternal ethanol consumption during pregnancy can result in a wide spectrum of effects on the embryo an... -- 2.3.3.2.2 Tobacco smoking. Maternal smoking during pregnancy interferes with fetal growth [149,150]. Birth weight and length and... -- 2.3.3.2.3 Cocaine. The extensive medical literature on the effects of maternal cocaine use in pregnancy is difficult to interpre... -- 2.3.3.2.4 Caffeine. While caffeine is teratogenic in high doses in some species, no convincing evidence linking this substance t... -- 2.3.3.3 Nonprescription Drugs -- 2.3.3.3.1 Salicylates and other anti-inflammatory drugs. Although aspirin and other salicylate compounds are believed to be amon... -- 2.3.3.4 Prescription Drugs -- 2.3.3.4.1 Thalidomide. The most dramatic epidemic of drug-induced birth defects ever recognized occurred in the early 1960s when... -- 2.3.3.4.2 Folic acid antagonists -- 2.3.3.4.2.1 Aminopterin and methotrexate. An unusual and characteristic pattern of congenital anomalies has been reported in mor... -- 2.3.3.4.2.2 Trimethoprim and other weak folic acid antagonists. An increased frequency of birth defects has been observed among ... -- 2.3.3.4.3 Anticancer agents. As the therapeutic efficacy of many antineoplastic agents is dependent on their ability to kill or ... -- 2.3.3.4.4 Warfarin anticoagulants. A very uncommon and striking pattern of congenital anomalies has been reported repeatedly amo... -- 2.3.3.4.5 Antibiotics and other anti-infective agents. Available studies have generally not revealed an increased risk to the fe.

2.3.3.4.5.1 Tetracyclines. Maternal treatment with tetracyclines during the second and third trimesters of pregnancy produces st... -- 2.3.3.4.5.2 Aminoglycosides. There is no indication that the risk of malformations in children of women treated with aminoglycos... -- 2.3.3.4.5.3 Quinine and related antimalarial agents. Maternal use of very high doses of quinine in an attempt to induce abortion... -- 2.3.3.4.5.4 Fluconazole. A few children have been described with a very unusual pattern of congenital anomalies whose mothers we... -- 2.3.3.4.6 Anticonvulsants. About 2% of women take anticonvulsant medications during pregnancy [225]. Treatment of pregnant women... -- 2.3.3.4.6.1 Valproic acid. A characteristic pattern of craniofacial and other anomalies has been observed in up to half of child... -- 2.3.3.4.6.2 Carbamazepine. A fetal anticonvulsant syndrome has also been observed among the children of epileptic women who were... -- 2.3.3.4.6.3 Other anticonvulsant agents. Phenobarbital is not often used as an anticonvulsant in adults, but primidone, which is... -- 2.3.3.4.7 Endocrine agents. A number of reports have suggested possible teratogenic effects of treatment with endocrine agents. ... -- 2.3.3.4.7.1 Female sex hormones. Diethylstibestrol. Diethylstilbestrol (DES) was widely used in the 1950s as a treatment for thr... -- 2.3.3.4.7.2 Other endocrine-active agents. Clomiphene. Induction of ovulation with clomiphene has been associated with an increa... -- 2.3.3.4.8 Retinoids and vitamin A. Preformed retinoids, including retinol, retinaldehyde, and retinoic acid, possess vitamin A a... -- 2.3.3.4.9 Lithium carbonate. Children of women who are treated with lithium during pregnancy appear to have an increased risk of.

2.3.3.4.10 Selective serotonin reuptake inhibitors. Selective serotonin reuptake inhibitors (SSRIs) are very widely used as anti... -- 2.3.3.4.11 Codeine and other opioid analgesics. A small increase in the frequency of congenital heart defects has been observed ... -- 2.3.3.4.12 Misoprostol. Misoprostol is a prostaglandin analogue that is used in the prevention and treatment of peptic ulcer dis... -- 2.3.3.4.13 Mycophenolate mofetil. An unusual pattern of malformations has been repeatedly observed among children whose mothers ... -- 2.3.3.4.14 Inhibitors of the renin-angiotensin system -- 2.3.3.4.14.1 ACE inhibitors. Neonatal renal failure and hypotension as well as fetal anuria resulting in oligohydramnios, joint ... -- 2.3.3.4.14.2 Angiotensin II receptor inhibitors. Losartan, candesartan, valsartan, and other antihypertensive drugs of the "sart... -- 2.3.3.4.15 Methylene blue. Up to 20% of twins born after genetic amniocentesis in which methylene blue was used as a marker deve... -- 2.3.3.4.16 Bendectin (Diclectin). A fixed combination of pyridoxine (vitamin B6) and doxylamine (an antihistamine), marketed in ... -- 2.3.3.5 Maternal Metabolic Factors -- 2.3.3.5.1 Inadequate folic acid intake. The recognition that the risk of many malformations, including neural tube defects, can ... -- 2.3.3.5.2 Diabetes mellitus. The principal maternal metabolic disorder that raises concern for the developing fetus is type 1 di... -- 2.3.3.5.3 Phenylketonuria. From 75% to 90% of children of women with phenylketonuria (PKU) who are not adequately treated during... -- 2.3.3.5.4 Obesity. Obesity is usually defined in relationship to height as the body mass index [BMI=weight in kg/(height in m)2]... -- 2.3.3.6 Autoimmune and Isoimmune Disease -- 2.4 PATERNAL EXPOSURES AND MATERNAL EXPOSURES BEFORE OR SHORTLY AFTER CONCEPTION -- 2.5 FUTURE PERSPECTIVE.

2.6 CONCLUSION.

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