New syndromes from old: Evaluation of heterogeneity and variability in syndrome definition and delineation
作者:
Helga V. Toriello,
John M. Opitz,
James F. Reynolds,
Robert J. Gorlin,
期刊:
American Journal of Medical Genetics
(WILEY Available online 1988)
卷期:
Volume 31,
issue S4
页码: 55-70
ISSN:0148-7299
年代: 1988
DOI:10.1002/ajmg.1320310511
出版商: Wiley Subscription Services, Inc., A Wiley Company
关键词: nosology of genetic disease;genetic disease nosology
数据来源: WILEY
摘要:
AbstractIn 1969, McKusick discussed the nosology of genetic disease and the importance of considering heterogeneity and variability. Those considerations are still important today in that new syndromes are being described at the rate of one or more per week. However, often a “new” syndrome actually represents variable expression of a previously described condition; at other times, a child is reported as having a variant of a previously described syndrome when in reality that child has a distinct condition. The concepts of variability and heterogeneity will be discussed in the context of recently described findings in some “old” syndromes, thus shedding new light
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