November 1993

The State of the Art of Dysmorphology

Author Affiliations

From the Department of Pediatrics, University of Kentucky, Lexington.

Am J Dis Child. 1993;147(11):1184-1189. doi:10.1001/archpedi.1993.02160350058008

• The art of dysmorphology is simply a more detailed historical and clinical evaluation of a potentially dysmorphic individual. It requires precise observation and collating of all physical features, followed by interpretation, categorization, and diagnosis. It also requires an understanding of morphogenesis combined with an appreciation of form. Clinicians who practice dysmorphology well have certain personality traits that aid them in their pursuit of a diagnosis. Dysmorphology is at its apex of clinical maturation, but scientific discoveries and technology have begun to explain how and why malformations arise and why syndromes vary. Nevertheless, expertise in dysmorphology remains a clinical skill attainable by all who desire it. This visual diagnostic modality is inexpensive and often quick. Continued emphasis in training of dysmorphology in genetic fellowship programs will be critical to producing well-balanced clinical geneticists.

(AJDC. 1993;147:1184-1189)