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Contents
- 1 Genetic Testing Gregory M. Enns, Louanne Hudgins, and Tina M. Cowan
- 2 Short Stature Melanie A. Manning
- 3 Obesity David J. Aughton
- 4 Overgrowth Syndromes Margaret P. Adam
- 5 Asymmetry Omar A. Abdul-Rahman
- 6 Microcephaly Cynthia J. Curry and Jacob S. Hogue
- 7 Macrocephaly Helga V. Toriello and Margaret P. Adam
- 8 Alterations in Cranial Shape Michael J. Lyons
- 9 Brain Malformations Anne Slavotinek
- 10 Intellectual Disability Agatino Battaglia
- 11 Autism Spectrum Disorders Marwan Shinawi
- 12 Hypotonia Elliott H. Sherr and Gregory M. Enns
- 13 Weakness Amy Kao and Robert D. Steiner
- 14 Ataxia Ching H. Wang and Gregory M. Enns
- 15 Seizures Randall A. Heidenreich
- 16 Metabolic Acidosis Tina M. Cowan and Gregory M. Enns
- 17 Hypoglycemia Divya Vats and Seymour Packman
- 18 Hyperammonemia Gregory M. Enns and Tina M. Cowan
- 19 Hepatosplenomegaly Renata C. Gallagher
- 20 Hearing Loss Eloise Prijoles
- 21 Malformations of the External Ear Chad Haldeman-Englert and Helga V. Toriello
- 22 Anomalies of the Eye Graeme C. Black and Rachel Gillespie
- 23 Facial Clefting Marilyn C. Jones
- 24 Congenital Heart Defects Tom Cushing and Joseph T. C. Shieh
- 25 Genetics of Renal Malformations Joseph T. C. Shieh
- 26 Limb Anomalies David B. Everman and Leslie G. Biesecker
- 27 Congenital Contractures: Emphasizing Multiple Congenital Contractures—Arthrogryposis Judith G. Hall
- 28 Disorders of Sexual Development Christopher Cunniff
- 29 Alterations in Skin Pigmentation Anna L. Bruckner
- 30 Skin Malformations Mary Beth Palko Dinulos
- 31 Spontaneous Abortion and Intrauterine Fetal Death Andrea Kwan and H. Eugene Hoyme