Signs and Symptoms of Genetic Conditions

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. MAIN FEATURES Clinical manual that guides users from nonspecific presenting symptom to differential diagnoses Expert, symptom-led chapters from the world's most qualified physicians in each area Succinct presentation of protocols with easy-to-follow flowcharts Recommended lab and imaging studies accompanying each sign/symptom Follow-up and supervision strategies for each differential diagnosis Edited by Louanne Hudgins, Chief of the Division of Medical Genetics and Professor of Pediatrics, Stanford University and Lucille Packard Children's Hospital, Helga V. Toriello, Professor of Pediatrics and Human Development, Michigan State University, Gregory M. Enns, Associate Professor of Pediatrics in the Division of Medical Genetics, Stanford University and Lucille Packard Children's Hospital, and H. Eugene Hoyme, Professor of Pediatrics, Sanford School of Medicine of the University of South Dakota 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. 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