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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.
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