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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.
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
David J. Aughton
4: Overgrowth Syndromes
Margaret P. Adam
Omar A. Abdul- Rahman
Cynthia J. Curry
Helga V. Toriello and Margaret P. Adam
8: Alterations in cranial shape
Michael J. Lyons
9: Brain malformations
10: Intellectual disability
Elliott H. Scherr and Gregory M. Enns
Amy Kao and Robert D. Steiner
Ching H. Wang and Gregory M. Enns
Randall A. Heidenreich
Tina M. Cowan and Gregory M. Enns
Divya Vats and Seymour Packman
Gregory M. Enns and Tina M. Cowan
20: Hearing Loss
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
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