GENETIC CONSULTATIONS IN THE NEWBORN

GENETIC CONSULTATIONS IN THE NEWBORN

Editorial:
OXFORD UNIVERSITY PRESS
Año de edición:
Materia
Pediatría
ISBN:
978-0-19-999099-3
Páginas:
400
N. de edición:
1
Idioma:
Inglés
Disponibilidad:
Disponible en 2-3 semanas

Descuento:

-5%

Antes:

83,00 €

Despues:

78,85 €

• 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 System
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

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.

Features
• A streamlined diagnostic manual for neonatologists, clinical geneticists, and pediatricians - any clinician who cares for newborns
• Organized by symptom and system, enriched with more than 250 photographs and clinical pearls derived from the authors' decades of clinical practice
• Includes "Syndromes You Should Know" appendix, distilling the most frequently encountered syndromes and chromosomal abnormalities in newborns
• OMIM numbers for each condition situate authors' practical guidance in the broader genetics literature, connecting readers to the most up-to-date references
• An essential resource for all who care for infants during their first moments of life

Authors
• 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.