2nd ed, vols 1 and 2, edited by A. E. H. Emery and D. L. Rimoin, 2167 pp, $255, New York, NY, Churchill Livingstone Inc, 1990.
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All medical practitioners, and especially pediatricians, encounter patients with genetic disorders or conditions affected by genetic factors, and thus need to be aware of their cause, pathogenesis, natural history, prognosis, treatment, and prevention.
This two-volume resource of contemporary medical genetics is a scholarly work written by more than 150 outstanding international expert contributors. Although the primary audience is likely to be medical geneticists and those in training for this subspecialty, these volumes can provide the pediatrician an introduction to the basic principles of medical genetics and an excellent summary of hundreds of specific genetic conditions and categories of genetic disorders. For most such entities, it is not a rapid, practical guide, but rather provides a context for understanding the manifestations and cause, the recurrence risk, potential prenatal diagnostic testing, and genetic counseling issues, as well as an entrée into the medical literature. Other books provide greater detail in specific areas,
CASSIDY SB. Principles and Practice of Medical Genetics. Am J Dis Child. 1992;146(12):1492. doi:10.1001/archpedi.1992.02160240102031