Genetic testing and genome sequencing have opened up the possibility to clinicians and families to treat diseases, syndromes, and malformations earlier and provide therapeutic interventions.The guest editors seek to provide a basic overview of the topic for the neonatologist/perinatologist. Articles addres dysmorphology, syndromes in the infant, skeletal dysplasias, limb malformations, craniofacial anomolies, GI/liver disease, disorders of sexual develoment, brain defects, inborn errors of metabolism, and congenital heart disease.
1. Cover image - p. 1 2. Title page - p. 2 3. Table of Contents - p. 3 4. Copyright - p. 4 5. Contributors - p. 5 6. CME Accreditation Page - p. 8 7. Forthcoming Issues - p. 9 8. Erratum - p. 10 9. Foreword: The Future of Personalized and Precision Perinatal Medicine - p. 11 10. Preface: Genetics in the Twenty-First Century - p. 12 11. Gamut of Genetic Testing for Neonatal Care - p. 13 12. Copy Number Variants, Aneuploidies, and Human Disease - p. 19 13. Evaluation and Diagnosis of the Dysmorphic Infant - p. 27 14. Recognizable Syndromes in the Newborn Period - p. 35 15. Congenital Limb Deficiency Disorders - p. 44 16. Skeletal Dysplasias - p. 48 17. Newborn Craniofacial Malformations - p. 58 18. Structural Brain Defects - p. 66 19. Neonatal Hypotonia - p. 78 20. Genetics and Genetic Testing in Congenital Heart Disease - p. 83 21. Disorders of Sexual Development - p. 94 22. Inborn Errors of Metabolism - p. 102 23. Newborn Screening - p. 113 24. Index - p. 119
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Genetic testing and genome sequencing have opened up the possibility to clinicians and families to treat diseases, syndromes, and malformations earlier and provide therapeutic interventions.The guest editors seek to provide a basic overview of the topic for the neonatologist/perinatologist. Articles addres dysmorphology, syndromes in the infant, skeletal dysplasias, limb malformations, craniofacial anomolies, GI/liver disease, disorders of sexual develoment, brain defects, inborn errors of metabolism, and congenital heart disease.
1. Cover image - p. 1 2. Title page - p. 2 3. Table of Contents - p. 3 4. Copyright - p. 4 5. Contributors - p. 5 6. CME Accreditation Page - p. 8 7. Forthcoming Issues - p. 9 8. Erratum - p. 10 9. Foreword: The Future of Personalized and Precision Perinatal Medicine - p. 11 10. Preface: Genetics in the Twenty-First Century - p. 12 11. Gamut of Genetic Testing for Neonatal Care - p. 13 12. Copy Number Variants, Aneuploidies, and Human Disease - p. 19 13. Evaluation and Diagnosis of the Dysmorphic Infant - p. 27 14. Recognizable Syndromes in the Newborn Period - p. 35 15. Congenital Limb Deficiency Disorders - p. 44 16. Skeletal Dysplasias - p. 48 17. Newborn Craniofacial Malformations - p. 58 18. Structural Brain Defects - p. 66 19. Neonatal Hypotonia - p. 78 20. Genetics and Genetic Testing in Congenital Heart Disease - p. 83 21. Disorders of Sexual Development - p. 94 22. Inborn Errors of Metabolism - p. 102 23. Newborn Screening - p. 113 24. Index - p. 119
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