Signs and Symptoms of Genetic Conditions

A Handbook

Louanne Hudgins, Helga V. Toriello, Gregory M. Enns, H. Eugene Hoyme (Herausgeber)

Buch | Softcover

560 Seiten

2014
Oxford University Press Inc (Verlag)
978-0-19-993097-5 (ISBN)

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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.

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

Verlagsort	New York
Sprache	englisch
Maße	234 x 157 mm
Gewicht	834 g
Themenwelt	Medizin / Pharmazie ► Gesundheitswesen
	Medizinische Fachgebiete ► Chirurgie ► Unfallchirurgie / Orthopädie
	Medizin / Pharmazie ► Medizinische Fachgebiete ► Gynäkologie / Geburtshilfe
	Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik
ISBN-10	0-19-993097-X / 019993097X
ISBN-13	978-0-19-993097-5 / 9780199930975
Zustand	Neuware