Computerized approach to X-linked mental retardation syndromes.
Photographs 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 teaching aid.
Arena
J F
JF
Department of Pediatrics, University of Miami School of Medicine, Florida 33101.
Lubs
H A
HA
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D016208:Databases, Factual; D003663:Decision Trees; D003936:Diagnosis, Computer-Assisted; D003937:Diagnosis, Differential; D005149:Facial Expression; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008838:Microcomputers; D010375:Pedigree; D010641:Phenotype; D010781:Photography; D012984:Software; D013577:Syndrome; D014960:X Chromosome