Signs and Symptoms of Genetic Conditions A Handbook

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  • Edition: 1st
  • Format: Paperback
  • Copyright: 2014-06-27
  • Publisher: Oxford University Press

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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 specific clinical 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 symptom

Whether for the student, resident, or seasoned clinician, Signs and Symptoms of Genetic Conditions will serve as a frontline resource for navigating differential diagnosis.

Author Biography

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 Associate Professor of Pediatrics in the Division of Medical Genetics at Stanford University and Lucille Packard Children's Hospital.

H. Eugene Hoyme, MD, is Professor of Pediatrics at the Sanford School of Medicine of the University of South Dakota and Chief Academic Officer and President of Research at Sanford Health.

Table of Contents

1: Genetic Testing
Gregory M. Enns, Louanne Hudgins, and Tina M. Cowan

2: Short Stature
Melanie A. Manning

3: Obesity
David J. Aughton

4: Overgrowth Syndromes
Margaret P. Adam

5: Asymmetry
Omar A. Abdul- Rahman

6: Microcephaly
Cynthia J. Curry

7: Macrocephaly
Helga V. Toriello and Margaret P. Adam

8: Alterations in cranial shape
Michael J. Lyons

9: Brain malformations
Anne Slavotinek

10: Intellectual disability
Agatino Battaglia

11: Autism
Marwan Shinawi

12: Hypotonia
Elliott H. Scherr and Gregory M. Enns

13: Weakness
Amy Kao and Robert D. Steiner

14: Ataxia
Ching H. Wang and Gregory M. Enns

15: Seizures
Randall A. Heidenreich

16: Acidosis
Tina M. Cowan and Gregory M. Enns

17: Hypoglycemia
Divya Vats and Seymour Packman

18: Hyperammonemia
Gregory M. Enns and Tina M. Cowan

19: Hepatosplenomegaly
Renata Gallagher

20: Hearing Loss
Eloise Prijoles

21: Ear malformations
Chad Haldeman-Englert and Helga V. Toriello

22: Eye malformations
Graeme Black and Rachel Gillespie

23: Facial Clefting
Marilyn C. Jones

24: Cardiac malformations
Thomas Cushing and Joseph T.C. Shieh

25: Renal malformations
Joseph T.C. Shieh

26: Limb malformations
Leslie G. Biesecker and David B. Everman

27: Congenital contractures
Judith G. Hall

28: Disorders of Sexual Development
Christopher Cunniff

29: Skin pigmentations
Anna L. Bruckner

30: Skin abnormalities
Mary Beth Palko Dinulos

31: Spontaneous Abortion and Intrauterine Fetal Death
Andrea Kwan and H. Eugene Hoyme

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