Signs and Symptoms of Genetic Conditions: A Handbook

ISBN-13: 9780199930975 / Angielski / Miękka / 2014 / 560 str.

Louanne Hudgins; Helga V. Toriello; Gregory M. Enns

Opis

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.

O autorze

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.