Genetic Consultations in the Newborn 1st edition by Robin D. Clark – Ebook PDF Instant Download/DeliveryISBN: 0190931049, 9780190931049
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Product details:
ISBN-10 : 0190931049
ISBN-13 : 9780190931049
Author: Robin D. Clark
“The definitive work in genetic evaluation of newborns. I cannot recommend it strongly enough.” -Judith G. HallAs demand continues to exceed availability when it comes to clinical geneticists, Genetic Consultations in the Newborn offers an essential new resource for practitioners everywhere: a streamlined diagnostic manual that connects subtle symptoms of newborn dysmorphology to their differential diagnosis. Comprising more than 60 chapters organized by system and symptom, this book facilitates fast, expert navigation from recognition to management in syndromes that manifest during the newborn period. Richly illustrated and packed with pearls of practical wisdom from the authors’ decades of practice, it empowers readers to recognize the outward signs and symptoms crucial for an effective diagnosis. For geneticists, neonatologists, pediatricians, and anyone else who cares for infants in their first days of life, Genetic Consultations in the Newborn provides an essential and unmatched resource for navigating one of the most challenging areas of clinical practice. It should not be missed.
Genetic Consultations in the Newborn 1st Table of contents:
Part I Common Issues in the Newborn
1. Hypotonia
2. Intrauterine Growth Restriction
3. Overgrowth
4. Twins
5. Non-Immune Hydrops
6. Teratogenic Agents
Part II Cardiovascular System
7. Cardiac Defects
8. Heterotaxy
Part III Craniofacial System
9. Ear Anomalies
10. Eye Anomalies
11. Cleft Lip
12. Cleft Palate
13. Craniosynostoses
Part IV Central Nervous System
14. Macrocephaly and Megalencephaly
15. Microcephaly
16. Cerebellar Anomalies
17. Holoprosencephaly
18. Hydrocephalus
19. Neural Tube Defects
20. Perinatal Arterial Stroke
Part V Gastrointestinal System
21. Diaphragmatic Hernia
22. Gastroschisis
23. Omphalocele
24. Anorectal Malformations
25. Hirschsprung Disease
Part VI Genitourinary System
26. Renal and Urinary Tract Anomalies
27. Hypospadias
Part VII Skeletal System
28. Arthrogryposis
29. Clubfoot
30. Upper Extremity Anomalies
31. Lower Extremity Anomalies
32. Polydactyly
33. Syndactyly
Part VIII Skeletal Dysplasias
34. Skeletal Dysplasias: Overview
35. Skeletal Dysplasias: Life-Limiting
36. Skeletal Dysplasias: Viable
37. Skeletal Dysplasias: Fractures in Infancy
Part IX Skin System
38. Skin: Ectodermal Dysplasias
39. Skin: Epidermolysis Bullosa
40. Skin: Ichthyoses
41. Skin: Vascular Malformations
42. Skin: Other Disorders
Appendix: Syndromes That Commonly Present in the Newborn
1S. Trisomy 21
2S. Trisomy 18
3S. Trisomy 13
4S. Turner Syndrome
5S. Wolf–Hirschhorn Syndrome
6S. Chromosome 5p Deletion Syndrome
7S. Chromosome 22q11.2 Deletion Syndrome
8S. Achondroplasia
9S. Beckwith–Wiedemann Syndrome
10S. CHARGE Syndrome
11S. Cornelia de Lange Syndrome
12S. Diabetic Embryopathy
13S. Fetal Alcohol Spectrum Disorder
14S. Incontinentia Pigmenti
15S. Prader–Willi Syndrome
16S. Noonan Syndrome and Related Disorders
17S. Smith–Lemli–Opitz Syndrome
18S. VATER/VACTERL Association
19S. Williams Syndrome
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Tags: Genetic Consultations, the Newborn, Robin Clark, genetic evaluation