| Description |
1 online resource |
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text txt rdacontent |
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computer c rdamedia |
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online resource cr rdacarrier |
| Note |
Print version record. |
| Contents |
Genetic testing / Gregory M. Enns, Louanne Hudgins, and Tina M. Cowan -- Short stature / Melanie A. Manning -- Obesity / David J. Aughton -- Overgrowth syndromes / Margaret P. Adam -- Asymmetry / Omar A. Abdul-Rahman -- Microcephaly / Cynthia J. Curry -- Macrocephaly / Helga V. Toriello and Margaret P. Adam -- Alterations in cranial shape / Michael J. Lyons -- Brain malformations / Anne Slavotinek -- Intellectual disability / Agatino Battaglia -- Autism spectrum disorders / Marwan Shinawi -- Hypotonia / Elliott H. Sherr and Gregory M. Enns -- Weakness / Amy Kao and Robert D. Steiner -- Ataxia / Ching H. Wang and Gregory M. Enns -- Seizures / Randall A. Heidenreich -- Metabolic acidosis / Tina M. Cowan and Gregory M. Enns -- Hypoglycemia / Divya Vats and Seymour Packman -- Hyperammonemia / Gregory M. Enns and Tina M. Cowan -- Hepatosplenomegaly / Renata C. Gallagher -- Hearing loss / Eloise Prijoles -- Malformations of the external ear / Chad Haldeman-Englert and Helga V. Toriello -- Anomalies of the eye / Graeme C. Black and Rachel Gillespie -- Facial clefting / Marilyn C. Jones -- Congenital heart defects / Tom Cushing and Joseph T.C. Shieh -- Genetics of renal malformations / Joseph T.C. Shieh -- Limb anomalies / David B. Everman and Leslie G. Biesecker -- Congenital contractures: emphasizing multiple congenital contractures-arthrogryposis / Judith G. Hall -- Disorders of sexual development / Christopher Cunniff -- Alterations in skin pigmentation / Anna L. Bruckner -- Skin malformations / Mary Beth Palko Dinulos -- Spontaneous abortion and intrauterine fetal death / Andrea Kwan and H. Eugene Hoyme. |
| Summary |
"Connecting an abnormal physical exam to the 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."--Back cover |
| Bibliography |
Includes bibliographical references and index. |
| Subject |
Genetic disorders.
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Symptoms -- Handbooks, manuals, etc.
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Children.
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Diagnosis, Differential.
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Genetic screening.
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Child |
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Genetic Diseases, Inborn -- diagnosis |
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Genetic Diseases, Inborn |
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Diagnosis, Differential |
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Genetic Testing |
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Signs and Symptoms |
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Maladies génétiques.
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Signes et symptômes -- Guides, manuels, etc.
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Enfants.
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Diagnostics différentiels.
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Dépistage génétique.
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children (people by age group)
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HEALTH & FITNESS -- Diseases -- General.
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MEDICAL -- Clinical Medicine.
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MEDICAL -- Diseases.
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MEDICAL -- Evidence-Based Medicine.
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MEDICAL -- Internal Medicine.
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Genetic screening
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Diagnosis, Differential
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Children
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Genetic disorders
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Symptoms
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| Genre/Form |
Handbook |
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handbooks.
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Handbooks and manuals
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Handbooks and manuals.
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Guides et manuels.
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| Added Author |
Hudgins, Louanne, editor.
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Toriello, Helga V., editor.
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Enns, Gregory M., editor.
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Hoyme, H. Eugene, editor.
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| Other Form: |
Print version: Hudgins, Louanne. Signs and Symptoms of Genetic Conditions: A Handbook. Oxford : Oxford University Press, USA, 2014 9780199930975 (DLC) 2013048866 (OCoLC)865543983 |
| ISBN |
9780199388691 (electronic bk.) |
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0199388695 (electronic bk.) |
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9781306731331 (electronic bk.) |
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130673133X (electronic bk.) |
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019993097X (Paper) |
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9780199930975 (Paper) |
| Standard No. |
AU@ 000058374165 |
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