Atlas of Genetic Diagnosis and Counseling

Abstract

This book, Atlas of Genetic Diagnosis and Counseling, reflects my experience in 38 years of clinical genetics practice. During this time, I have cared for many patients and their families and taught innumerable medical students, residents, and prac- ticing physicians. As an academic physician, I have found that a picture is truly “worth a thousand words,” especially in the field of dysmorphology. Over the years, I have compiled photographs of my patients, which are incorporated into this book to illustrate selected genetic disorders, malformations, and malformation syndromes. A detailed outline of each disorder is provided, describing the genetics, basic defects, clinical features, diagnostic investiga- tions, and genetic counseling, including recurrence risk, prenatal diagnosis, and management. Color photographs are used to illustrate the clinical fea- tures of patients of different ages and ethnicities. Photographs of prenatal ultrasounds, imagings, cyto- genetics, and postmortem findings are included to help illustrate diagnostic strategies. The cases are supplemented by case history and diagnostic confir- mation by cytogenetics, biochemical, and molecular studies, if available. An extensive literature review was done to ensure up-to-date information and to provide a relevant bibliography for each disorder. This book was written in the hope that it will help physicians improve their recognition and understanding of these conditions and their care of affected individuals and their families. It is also my intention to bring the basic science and clinical med- icine together for the readers. Atlas of Genetic Diagnosis and Counseling is designed for physicians involved in the evaluation and counseling of patients with genetic diseases, malformations, and malforma- tion syndromes, including medical geneticists, genetic counselors, pediatricians, neonatologists, developmental pediatricians, perinatologists, obste- tricians, neurologists, pathologists, and any physi- cians and health care professionals caring for handicapped children such as craniofacial surgeons, plastic surgeons, otolaryngologists, and orthopedics. I am grateful to many individuals for their invaluable help in reading and providing cases for illustration. The acknowledgments are provided on a separate page. Without the patience and encour- agement of my dear wife, Cheryl, this atlas would not have been possible. I would like to dedicate this book to Children’s Hospital, Louisiana State University Health Sciences Center in Shreveport, for its continued excellence in pediatric care and education.