Abnormal appearances: inspection, display and the clinic

Area of Science:

• Clinical Genetics
• Medical Anthropology
• Human Genetics

Background:

• Dysmorphology combines historical methods of visual inspection with modern molecular genetic analysis.
• Clinical genetics services increasingly integrate genetic testing with traditional diagnostic approaches.

Purpose of the Study:

• To examine the intersection of genetic science and clinical practice in contemporary dysmorphology.
• To explore how molecular testing and clinical interpretation coexist in diagnosing abnormal appearances and development.

Main Methods:

• Ethnographic engagement with UK clinical genetics services.
• Analysis of the work and discourse of two clinical genetics teams.

Main Results:

• Molecular testing frequently identifies genetic causes for unusual appearances and developmental abnormalities.
• Clinical observation and interpretation remain crucial, complementing rather than being replaced by molecular data.
• The practice of dysmorphology integrates biomedical knowledge with the clinical gaze and established classificatory systems.

Conclusions:

• Contemporary dysmorphology exemplifies a medical epistemology balancing molecular data with clinical expertise.
• Unusual appearances, even those considered 'monstrous,' are integrated and understood within the framework of medical classification.
• The field demonstrates a synergistic relationship between genetic science and clinical judgment in understanding human variation.