a handbook Hudgins, Louanne editor of compilation. Toriello, Helga V. editor of compilation. Enns, Gregory M. editor of compilation. Hoyme, H. Eugene editor of compilation. text bibliography Print books. enk [2014] 2014 2014 monographic eng

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xv, 540 pages : illustrations ; 24 cm 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. edited by Louanne Hudgins, Helga V. Toriello, Gregory M. Enns, H. Eugene Hoyme. Includes bibliographical references and index. Genetic disorders Diagnosis, Differential Child Handbooks Genetic Diseases, Inborn diagnosis Handbooks Diagnosis, Differential Handbooks Genetic Testing Handbooks Signs and Symptoms Handbooks RB155.5 .S574 2014 616/.042 WS 39 9780199930975 (pbk. : alk. paper) 2013048866 DNLM/DLC 131209 20161026151821.0 17972046