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
This resource is supported by the Institute of Museum and Library Services under the provisions of the Library Services and Technology Act as administered by State Library of Iowa.