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SPECIALIZED GENETIC SERVICE
Dysmorphology is the study of congenital birth defects that alter the shape or form of a body part. An assessment involves a detailed physical examination to look for specific patterns of features.
Children or adults with unusual facial features, growth problems, or birth defects.
A thorough, non-invasive physical exam, detailed measurements, and a review of medical history. This often provides crucial clues for diagnosis.
Can this provide a definitive diagnosis?
It often points towards a specific syndrome or class of syndromes, which can then be confirmed with genetic testing.