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.
Common issues in the newborn 1. Hypotonia2. Intrauterine growth retardation3. Overgrowth4. Twins5. Non-Immune hydrops6. Teratogenic agentsCardiovascular System 7. Cardiac defects8. HeterotaxyCraniofacial Sysyem9. Ear anomalies10. Eye anomalies11. Cleft lip12. Cleft palate13. CraniosynostosesCentral Nervous System14. Macrocephaly15. Microcephaly16. Cerebellar malformations17. Holoprosencephaly18. Hydrocephalus19. Neural tube defects20. Perinatal strokeGastrointestinal System21. Diaphragmatic hernia22. Gastroschisis23. Omphalocele24. Anorectal malformations25. Hirschsprung diseaseGenitourinary System 26. Renal anomalies27. HypospadiasSkeletal SystemLimbs28. Arthrogryposis29. Club foot30. Upper extremity anomalies31. Lower extremity anomalies32. Polydactyly33. SyndactylySkeletal Dysplasias34. Skeletal dysplasias: Overview35. Skeletal dysplasias: Life limiting36. Skeletal dysplasias: Viable37. FracturesSkin System38. Skin: Ectodermal dysplasias39. Skin: Epidermolysis bullosa40. Skin: Ichthyoses41. Skin: Vascular malformations42. Skin: Other disordersSyndromes that commonly present in the newborn 1s. Trisomy 212s. Trisomy 183s. Trisomy 134s. Turner syndrome5s. Wolf-Hirschhorn syndrome6s. Chr 5p minus syndrome7s. Deletion Chr 22q11.28s. Achondroplasia9s. Beckwith Wiedemann syndrome10s. CHARGE syndrome11s. Cornelia de Lange syndrome12s. Diabetic Embryopathy13s. Fetal Alcohol Spectrum disorder14s. Incontinentia pigmenti15s. Prader Willi syndrome16s. Noonan syndrome17s. Smith Lemli Opitz syndrome18s. VATER/VACTERL association19s. Williams syndrome
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