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November 1993

Telediagnostic Conferencing

Author Affiliations

From the National Birth Defects Center, Boston, Mass (Drs Feingold and Lin and Ms Horwitz); the Department of Pediatrics, University of South Florida, Tampa (Dr Frias); and the Department of Pediatrics, University of Nebraska Medical Center, Omaha (Dr Schaefer).

Am J Dis Child. 1993;147(11):1196. doi:10.1001/archpedi.1993.02160350070010

In most genetic and birth defects centers, a definitive syndrome diagnosis is frequently not made. This situation is understandable because the origin may be a biochemical or chromosomal abnormality that is still unknown or a dysmorphologic syndrome that has not yet been identified. Also, because of the many advances being made in syndromology, the number of newly discovered syndromes exceeds the recall abilities of even the most astute dysmorphologists and syndromologists.1,2 As we identify more syndromes (and this is happening at a rapid pace with gene identification), it is to be hoped that the number of patients for whom no diagnosis of their condition can be given will decrease steadily.

However, until such time, clinicians will continue to seek help in making syndrome diagnoses. Some of the presently available diagnostic aids include diagnostic computer databases, journals that present undiagnosed syndromes, and "curbstone" consultations at genetic and birth defects meetings.

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