Medical Genetics. Its Application to Speech, Hearing and Craniofacial Disorders

About the book

Nowhere in the literature is there a book that reviews the rapidly developing field medical genetics from theories to its implications for clinical practice. Nathaniel Robin’s book fills that void. His new book covers the whole field of medical genetics from a general overview of the profession to details of effective treatment of patients with common and esoteric genetic disorders—including birth defects, hearing loss, oro-facial clefting, craiosynostosis, and much more. Crucially, as issues surrounding breakthroughs in understanding and development of new technologies in genetics have risen to the fore of the cultural consciousness, he gives coverage to the many ethical questions raised.

Contents

Forward
Dr. Robert J. Shprintzen

Introduction
Nathaniel H. Robin, MD

Genetics Professionals: An Overview
Nathaniel Robin, MD

Genetic Inheritance: Mendelian, Non-Mendelian and Multi-factorial
Nathaniel H. Robin, MD

Evaluation of the Patient with a Congenital Anomaly
Nathaniel H. Robin, MD

Classification of Birth Defects
Nathaniel H. Robin, MD and Marni Falk, MD

Genetic testing: Cytogenetics, Biochemical Genetics and Molecular Genetics and Testing
Nathaniel H. Robin, MD and Edward J. Lose, MD

Ethical Issues – Genetic Testing
Nathaniel H. Robin, MD

Genetic Counseling
Nathaniel H. Robin, MD and Sandra Prucka, CGC

Genetics and Hearing Loss
Nathaniel H. Robin, MD

Craniofacial Genetics I: Oro-facial Clefting
Nathaniel H. Robin, MD

Craniofacial Genetics II: Craniosynostosis and Related Syndromes
Nathaniel H. Robin, MD