Genetic Consultations in the Newborn

by Clark, Robin D.; Curry, Cynthia J.

• ISBN13: 9780190916503
• ISBN10: 0190916508
• Format: eBook
• Copyright: 2019-02-07
• Publisher: Oxford University Press

Summary

"The definitive work in genetic evaluation of newborns. I cannot recommend it strongly enough." -Judith G. Hall

As 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.

Author Biography

Robin D. Clark, MD, is Professor of Pediatrics in the Division of Medical Genetics at Loma Linda School of Medicine. She has more than 30 years' experience in the practice of clinical genetics, including expertise in dysmorphology, prenatal diagnosis, cytogenetics, and clinical cancer genetics. She trained in medical genetics at Harbor-UCLA Medical Center and in dysmorphology at the Institute for Child Health in London.

Cynthia J. Curry, MD, is Professor of Pediatrics, Emerita, at the University of California, San Francisco. She is an accomplished dysmorphologist and clinical geneticist with decades of experience in the evaluation of infants and children with both common and rare problems and malformations. She is an expert on the prenatal evaluation of abnormal fetal presentations and of stillborn infants. She developed the genetic services at Valley Children's Hospital in Madera, California, and at Community Regional Medical Center in Fresno, California.

Table of Contents

Common issues in the newborn

1. Hypotonia
2. Intrauterine growth retardation
3. Overgrowth
4. Twins
5. Non-Immune hydrops
6. Teratogenic agents

Cardiovascular System

7. Cardiac defects
8. Heterotaxy

Craniofacial Sysyem

9. Ear anomalies
10. Eye anomalies
11. Cleft lip
12. Cleft palate
13. Craniosynostoses

Central Nervous System

14. Macrocephaly
15. Microcephaly
16. Cerebellar malformations
17. Holoprosencephaly
18. Hydrocephalus
19. Neural tube defects
20. Perinatal stroke

Gastrointestinal System

21. Diaphragmatic hernia
22. Gastroschisis
23. Omphalocele
24. Anorectal malformations
25. Hirschsprung disease

Genitourinary System

26. Renal anomalies
27. Hypospadias

Skeletal System

Limbs
28. Arthrogryposis
29. Club foot
30. Upper extremity anomalies
31. Lower extremity anomalies
32. Polydactyly
33. Syndactyly

Skeletal Dysplasias

34. Skeletal dysplasias: Overview
35. Skeletal dysplasias: Life limiting
36. Skeletal dysplasias: Viable
37. Fractures

Skin System

38. Skin: Ectodermal dysplasias
39. Skin: Epidermolysis bullosa
40. Skin: Ichthyoses
41. Skin: Vascular malformations
42. Skin: Other disorders

Syndromes that commonly present in the newborn

1s. Trisomy 21
2s. Trisomy 18
3s. Trisomy 13
4s. Turner syndrome
5s. Wolf-Hirschhorn syndrome
6s. Chr 5p minus syndrome
7s. Deletion Chr 22q11.2
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
17s. Smith Lemli Opitz syndrome
18s. VATER/VACTERL association
19s. Williams syndrome