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.
Signs and symptoms of genetic disease : a handbook. ISBN 9780199930975. Published by Oxford University Press in 2014. Publication and catalogue information, links to buy online and reader comments.