Signs and Symptoms of Genetic Conditions: A Handbook

ISBN : 9780199930975

Louanne Hudgins; Helga V. Toriello; Gregory M. Enns; H. Eugene Hoyme
560 ページ
173 x 240 mm

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.


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


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.