Genetic Consultations in the Newborn

Description

This book was written to assist clinicians who care for newborns with congenital abnormalities in their diagnosis, genomic testing, and management. The goal was to make the evaluation of common neonatal anomalies and genetic syndromes accessible and understandable. In addition, the book may serve as an initial guide for practitioners in areas in which clinical genetic expertise is not readily available. As the book was being written, the testing paradigm shifted to a genomic approach: Chromosome analysis gave way to microarrays, and single gene testing was largely replaced by gene panels and exome sequencing. Thus, this book, which was initially intended as a clinical primer, of necessity became a resource for gene-based information as well. Preface VII Acknowledgments IX Abbreviations XI Part I Common Issues in the Newborn 1. Hypotonia 3 2. Intrauterine Growth Restriction 11 3. Overgrowth 17 4. Twins 25 5. Non- Immune Hydrops 31 6. Teratogenic Agents 37 Part II Cardiovascular System 7. Cardiac Defects 49 8. Heterotaxy 57 Part III Craniofacial System 9. Ear Anomalies 63 10. Eye Anomalies 69 11. Cleft Lip 79 12. Cleft Palate 85 13. Craniosynostoses 91 Part IV Central Nervous System 14. Macrocephaly and Megalencephaly 103 15. Microcephaly 109 16. Cerebellar Anomalies 115 17. Holoprosencephaly 121 18. Hydrocephalus 127 19. Neural Tube Defects 133 20. Perinatal Arterial Stroke 139 Part V Gastrointestinal System 21. Diaphragmatic Hernia 147 22. Gastroschisis 153 23. Omphalocele 157 24. Anorectal Malformations 163 25. Hirschsprung Disease 167 Part VI Genitourinary System 26. Renal and Urinary Tract Anomalies 173 27. Hypospadias 183 Part VII Skeletal System 28. Arthrogryposis 191 29. Clubfoot 197 30. Upper Extremity Anomalies 203 31. Lower Extremity Anomalies 211 32. Polydactyly 217 33. Syndactyly 223 Part VIII Skeletal Dysplasias 34. Skeletal Dysplasias: Overview 231 35. Skeletal Dysplasias: Life- Limiting 235 36. Skeletal Dysplasias: Viable 241 37. Skeletal Dysplasias: Fractures in Infancy 249 Part IX Skin System 38. Skin: Ectodermal Dysplasias 257 39. Skin: Epidermolysis Bullosa 261 40. Skin: Ichthyoses 267 41. Skin: Vascular Malformations 273 42. Skin: Other Disorders 277 Appendix: Syndromes That Commonly Present in the Newborn 283 1S. Trisomy 21 285 2S. Trisomy 18 289 3S. Trisomy 13 293 4S. Turner Syndrome 297 5S. Wolf– Hirschhorn Syndrome 301 6S. Chromosome 5p Deletion Syndrome 305 7S. Chromosome 22q11.2 Deletion Syndrome 309 8S. Achondroplasia 313 9S. Beckwith– Wiedemann Syndrome 317 10S. CHARGE Syndrome 321 11S. Cornelia de Lange Syndrome 325 12S. Diabetic Embryopathy 329 13S. Fetal Alcohol Spectrum Disorder 333 14S. Incontinentia Pigmenti 337 15S. Prader– Willi Syndrome 341 16S. Noonan Syndrome and Related Disorders 345 17S. Smith– Lemli– Opitz Syndrome 349 18S. VATER/ VACTERL Association 353 19S. Williams Syndrome 357 Index 361