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"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.
Inhaltsverzeichnis
- 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
Über den Autor / die Autorin
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.
Zusammenfassung
"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.
Zusatztext
Overall, it is a useful resource for practising neonatologists and the pediatricians requiring a genetic consultation for the care of infants with common congenital malformations and related genetic syndromes. I recommend this book as a quick reference for initiating a genetic workup especially in areas that do not have access to the clinical genetics expertise.
