Signs and Symptoms of Genetic Conditions: A Handbook by Louanne HudginsSigns and Symptoms of Genetic Conditions: A Handbook by Louanne Hudgins

Signs and Symptoms of Genetic Conditions: A Handbook

EditorLouanne Hudgins, Helga V. Toriello, Gregory M. Enns

Paperback | June 3, 2014

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Connecting an abnormal physical exam to a possible genetic condition is a daunting and inexact task for any physician, be they a primary care provider, non-geneticist specialist, or fellowship-trained geneticist. Comprising 31 clinical protocols from the world's foremost clinical geneticists, Signs and Symptoms of Genetic Conditions provides a practical manual for the diagnosis and management of common human genetic conditions based on their presenting signs and/or symptoms. Each chapter examines a specificclinical finding and leads the user through a step-by-step approach to a differential diagnosis. To maximize clinical utility, this handbook features:* Prominent flow chart diagrams that graphically depict the diagnostic approach * Concise recommendations for laboratory and/or imaging studies * Health supervision and management strategies for the most common conditions associated with each presenting sign or symptomWhether for the student, resident, or seasoned clinician, Signs and Symptoms of Genetic Conditions will serve as a frontline resource for navigating differential diagnosis.
Louanne Hudgins, MD, is Chief of the Division of Medical Genetics and Professor of Pediatrics at Stanford University and Lucille Packard Children's Hospital. Helga V. Toriello, PhD, is Professor of Pediatrics and Human Development at Michigan State University and Director of Clinical Genetics at Spectrum Health. Gregory M. Enns, MD, is...
Title:Signs and Symptoms of Genetic Conditions: A HandbookFormat:PaperbackDimensions:496 pages, 9.25 × 6.12 × 0.68 inPublished:June 3, 2014Publisher:Oxford University PressLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:019993097X

ISBN - 13:9780199930975

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Table of Contents

1. Gregory M. Enns, Louanne Hudgins, and Tina M. Cowan: Genetic Testing2. Melanie A. Manning: Short Stature3. David J. Aughton: Obesity4. Margaret P. Adam: Overgrowth Syndromes5. Omar A. Abdul- Rahman: Asymmetry6. Cynthia J. Curry: Microcephaly7. Helga V. Toriello and Margaret P. Adam: Macrocephaly8. Michael J. Lyons: Alterations in cranial shape9. Anne Slavotinek: Brain malformations10. Agatino Battaglia: Intellectual disability11. Marwan Shinawi: Autism12. Elliott H. Scherr and Gregory M. Enns: Hypotonia13. Amy Kao and Robert D. Steiner: Weakness14. Ching H. Wang and Gregory M. Enns: Ataxia15. Randall A. Heidenreich: Seizures16. Tina M. Cowan and Gregory M. Enns: Acidosis17. Divya Vats and Seymour Packman: Hypoglycemia18. Gregory M. Enns and Tina M. Cowan: Hyperammonemia19. Renata Gallagher: Hepatosplenomegaly20. Eloise Prijoles: Hearing Loss21. Chad Haldeman-Englert and Helga V. Toriello: Ear malformations22. Graeme Black and Rachel Gillespie: Eye malformations23. Marilyn C. Jones: Facial Clefting24. Thomas Cushing and Joseph T.C. Shieh: Cardiac malformations25. Joseph T.C. Shieh: Renal malformations26. Leslie G. Biesecker and David B. Everman: Limb malformations27. Judith G. Hall: Congenital contractures28. Christopher Cunniff: Disorders of Sexual Development29. Anna L. Bruckner: Skin pigmentations30. Mary Beth Palko Dinulos: Skin abnormalities31. Andrea Kwan and H. Eugene Hoyme: Spontaneous Abortion and Intrauterine Fetal Death