Medical Genetics

Nathaniel Robin, M.D. is a Professor in the Departments of Genetics and Pediatrics at the University of Alabama at Birmingham. His clinical practice is as a general medical geneticist, with an expertise in craniofacial disorders and the genetics of deafness, and is the attending geneticist for the UAB Cleft and Craniofacial Clinics. His research has focused on syndrome identification and delineation, craniofacial disorders, and the genetics of deafness. Dr. Robin has authored over 100 peer reviewed publications, reviews, and book chapters, and he directs the educational activities for the UAB Department of Genetics. Dr. Robin has presented nationally on the topics of craniofacial genetics and deafness. He is a member of the board of the Velocardiofacial Syndrome Educational Foundation, and served as the genetics section editor for the Cleft Palate-Craniofacial Journal.

Foreword Dr. Robert J. Shprintzen Introduction Nathaniel H. Robin, MD Genetics Professionals: An Overview Nathaniel Robin, MD Genetic Inheritance: Mendelian, Non-Mendelian and Multifactorial Nathaniel H. Robin, MD The 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 Edward J. Lose, MD and Nathaniel H. Robin, MD Ethical Issues in Genetic Testing Nathaniel H. Robin, MD Genetic Counseling and Your Practice Nathaniel H. Robin, MD and Sandra Prucka, CGC Genetics and Hearing Loss Nathaniel H. Robin, MD Craniofacial Genetics I: Clef Lip and Cleft Palate Nathaniel H. Robin, MD Craniofacial Genetics II: Craniosynostosis and Related Syndromes Nathaniel H. Robin, MD Index