Main description:

Connecting an abnormal physical exam to a 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.

To maximize clinical utility, this handbook features:

- Prominent flow chart diagrams that graphically depict the diagnostic approach
- Concise recommendations for laboratory and/or imaging studies
- Health supervision and management strategies for the most common conditions associated with each presenting sign or symptom

Whether for the student, resident, or seasoned clinician, Signs and Symptoms of Genetic Conditions will serve as a frontline resource for navigating differential diagnosis.

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 ; 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 ; Marwan Shinawi ; 12: Hypotonia ; Elliott H. Scherr 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: 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 Gallagher ; 20: Hearing Loss ; Eloise Prijoles ; 21: Ear malformations ; Chad Haldeman-Englert and Helga V. Toriello ; 22: Eye malformations ; Graeme Black and Rachel Gillespie ; 23: Facial Clefting ; Marilyn C. Jones ; 24: Cardiac malformations ; Thomas Cushing and Joseph T.C. Shieh ; 25: Renal malformations ; Joseph T.C. Shieh ; 26: Limb malformations ; Leslie G. Biesecker and David B. Everman ; 27: Congenital contractures ; Judith G. Hall ; 28: Disorders of Sexual Development ; Christopher Cunniff ; 29: Skin pigmentations ; Anna L. Bruckner ; 30: Skin abnormalities ; Mary Beth Palko Dinulos ; 31: Spontaneous Abortion and Intrauterine Fetal Death ; Andrea Kwan and H. Eugene Hoyme