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.
About the Author
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.
۱ Genetic Testing
۲ Short Stature
۴ Overgrowth Syndromes
۸ Alterations in Cranial Shape
۹ Brain Malformations
۱۰ Intellectual Disability
۱۱ Autism Spectrum Disorders
۱۶ Metabolic Acidosis
۲۰ Hearing Loss
۲۱ Malformations of the External Ear
۲۲ Anomalies of the Eye
۲۳ Facial Getting
۲۴ Congenital Heart Defects
۲۵ Genetics of Renal Malformations
۲۶ Limb Anomalies
۲۷ Congenital Contractures: Emphasizing Multiple Congenital Contractures— Arthrogryposis
۲۸ Disorders of Sexual Development
۲۹ Alterations in Skin Pigmentation
۳۰ Skin Malformations
۳۱ Spontaneous Abortion and Intrauterine Fetal Death
لینک کوتاه : https://bookbaz.ir/?p=49053
نویسنده : Louanne Hudgins , Helga V. Toriello
ناشر : Oxford University Press; 1 edition
سال انتشار : 2014
زبان کتاب : انگلیسی
نوع فایل : PDF
تعداد صفحات : 558
(ISBN) شابک : 019993097X
قیمت کتاب درآمازون : $79.85
حجم فایل : 5 MB