Dysmorphology is the study of disordered development resulting in recognizable morphologic abnormalities that fall outside the range of normal human variation. The late David Smith, MD, a superb dysmorphologist and the original author of the illustrated guide to syndromes entitled Recognizable Patterns of Human Malformation (WB Saunders, Philadelphia), coined the term dysmorphology. The goal of any dysmorphic assessment is to correctly interpret the pattern of structural anomalies and to arrive at the diagnosis.
The practicing specialist dealing with the ear, nose, and buccopharyngeal region is now confronted more frequently with problems related to congenital anomalies. The spectacular advances in basic and clinical genetics during the past 2 decades have brought congenital malformations and inherited disorders to the forefront of medical attention and care.
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