03276cam a2200481 i 4500 17972046 US-DLC 20161026151821.0 131209t20142014enka b 000 0 eng 2013048866 9780199930975 (pbk. : alk. paper) 019993097X (pbk. : alk. paper) (DNLM)101621770 DNLM/DLC DLC rda DLC pcc Alfaisal Main Library RB155.5 .S574 2014 WS 39 616/.042 23 Signs and symptoms of genetic disease : a handbook / edited by Louanne Hudgins, Helga V. Toriello, Gregory M. Enns, H. Eugene Hoyme. Oxford ; New York : Oxford University Press, [2014] ©2014 xv, 540 pages : illustrations ; 24 cm text rdacontent unmediated rdamedia volume rdacarrier Includes bibliographical references and index. 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. Genetic disorders. Diagnosis, Differential. Child Handbooks. Genetic Diseases, Inborn diagnosis Handbooks. Diagnosis, Differential Handbooks. Genetic Testing Handbooks. Signs and Symptoms Handbooks. local 4 Print books. Hudgins, Louanne, editor of compilation. Toriello, Helga V., editor of compilation. Enns, Gregory M., editor of compilation. Hoyme, H. Eugene, editor of compilation. lcc BOOKS [2014] 311244 311244 0 0 lcc 0 0 AU AU GEN 2016-08-09 0 RB155.5 .S574 2014 AU0000000005452 2016-08-09 00:00:00 570.00 2016-08-09 BOOKS