Author Description

Syndromology is the clinical art of diagnosing children with multiple anomalies, many of which have specific diagnostic entities. Syndrome diagnosis is important because it fosters good patient care. As an unknown syndrome becomes delineated, its spectrum of anomalies, its natural history, and its recurrence risk become known, permitting better patient care and family counseling. So many syndromes with overlapping features have been described that confusion is common. This heavily illustrated book provides a rational work-up of patients with multiple anomalies. In lively fashion, the author discusses the history and clinical assessment of such patients, pointing out situations that require laboratory studies. He gives readers the necessary vocabularly and then discusses quantitative and qualitative approaches to the methodology of syndrome diagnosis. The volume concludes with chapters on dysmorphic growth and development, mental deficiency, and psychosocial considerations. Rapid advances in the field in recent years made fundamental changes to the text of the earlier edition necessary. The second edition has been completely reorganized and much new material has been added, including chapters on genetics, teratogens, minor anomalies, facial dysmorphology, syndrome classifications, and a guide to physical measurements. Since it emphasizes conceptual aspects, this book is suitable for medical students, pediatricians, medical geneticists, and other health professionals.