Atlas of Genetic Diagnosis and Counseling

This book, Atlas of Genetic Diagnosis and understanding of these conditions and their care of Counseling, reflects my experience in 38 years of affected individuals and their families. It is also my clinical genetics practice. During this time, I have intention to bring the basic science and clinical m- cared for many patients and their families and taught icine together for the readers. Atlas of Genetic innumerable medical students, residents, and prac- Diagnosis and Counseling is designed for physicians ticing physicians. As an academic physician, I have involved in the evaluation and counseling of patients found that a picture is truly “worth a thousand with genetic diseases, malformations, and malfor- words,” especially in the field of dysmorphology. tion syndromes, including medical geneticists, Over the years, I have compiled photographs of my genetic counselors, pediatricians, neonatologists, patients, which are incorporated into this book to developmental pediatricians, perinatologists, obs- illustrate selected genetic disorders, malformations, tricians, neurologists, pathologists, and any phy- and malformation syndromes. A detailed outline of cians and health care professionals caring for each disorder is provided, describing the genetics, handicapped children such as craniofacial surgeons, basic defects, clinical features, diagnostic investiga- plastic surgeons, otolaryngologists, and orthopedics. tions, and genetic counseling, including recurrence I am grateful to many individuals for their risk, prenatal diagnosis, and management. Color invaluable help in reading and providing cases for photographs are used to illustrate the clinical fea- illustration.