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Computerized approach to X‐linked mental retardation syndromes

 

作者: J. Fernando Arena,   Herbert A. Lubs,  

 

期刊: American Journal of Medical Genetics  (WILEY Available online 1991)
卷期: Volume 38, issue 2‐3  

页码: 190-199

 

ISSN:0148-7299

 

年代: 1991

 

DOI:10.1002/ajmg.1320380205

 

出版商: Wiley Subscription Services, Inc., A Wiley Company

 

关键词: computer;Macintosh;syndrome;X‐linked mental retardation;differential diagnosis

 

数据来源: WILEY

 

摘要:

AbstractPhotographs of normal and abnormal relatives with X‐linked mental retardation (XLMR) and clinical data are combined in a Macintosh II computer system to provide an objective and versatile means of evaluating developmental abnormalities. The system includes a flatbed scanner for the entry of photographs and text, additional memory to enhance resolution of photographs, and several programs which facilitate searches for keywords. The primary advantages of the system include an easy interaction between descriptive words and photographs, and rapid comparison of whole faces and specific traits from many individuals. Information within families and between disorders can easily be compared in coded or uncoded fashion. Data from the 34 currently described syndromes emerging from the category of “non‐specific XLMR” are being used to develop and test this approach. Neither standard photographs nor most computerized diagnostic systems permit this flexibility. Ultimately, this approach will provide a valuable diagnostic and teach

 

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