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.
Author(s): Robin D. Clark, Cynthia Jane Rapp Curry
Publisher: Oxford University Press
Year: 2019
Language: English
Pages: 400
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
