دانلود کتاب الگوهای قابل تشخیص اسمیت از ناهنجاری انسان

The questions set forth by Paget are still applicable. Every structural defect represents an inborn error in morphogenesis. Just as the study of inborn metabolic errors has extended our understanding of normal biochemistry, so may the accumulation of knowledge concerning defects in morphogenesis assist us in further unraveling the story of structural development. The major portion of this text is devoted to patterns of malformation, as contrasted with patterns of deformation due to mechanical factors, which is the subject of a separate text, Smith’s Recognizable Patterns of Human Deformation. You will also find relevant chapters on normal and abnormal morphogenesis, genetics and genetic counseling, minor anomalies and their relevance, a clinical approach toward a specific diagnosis for particular categorical problems, and normal standards of measurement for a variety of features. It is hoped that the design of the book will lend itself to practical clinical application, as well as provide a basic text for the education of those interested in a better understanding of alterations in morphogenesis. Furthermore, many of the charts have been developed for direct use in the counseling of patients and parents. Accurate diagnosis of a specific syndrome among the 0.7% of babies born with multiple malformations is a prerequisite to providing a prognosis and plan of management for the affected infant, as well as genetic counseling for the parents.