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April 1988

Diagnostic Recognition of Genetic Disease,

Author Affiliations

Program in Human Genetics McMaster University 1200 Main St W, HSC-3N17 Hamilton, Ontario Canada L8N 3Z5

Am J Dis Child. 1988;142(4):428. doi:10.1001/archpedi.1988.02150040082023

This article is only available in the PDF format. Download the PDF to view the article, as well as its associated figures and tables.


In his preface, Dr Nyhan states that the purpose of the book is "to provide material of practical benefit to the physician in the diagnosis and management of genetically determined disease." The book grew out of the authors' collected experience with a wide variety of genetic disorders; in essence, they have given us reviews of the literature expanded by their own cases and families and illustrative case reports. The emphasis is on the clinical presentation, differential diagnosis, and workup of the patient that will efficiently lead to diagnosis and management. The mode of inheritance is described, and there is a sufficient amount of biochemical information to enable the clinician to appreciate the nature of the basic defect without being intimidated by detail. The black-and-white illustrations are generally of high quality and appropriately plentiful. Some, such as the photographs of xanthomas and other skin lesions, would have benefited from color.


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