Diagnostic approach to dysmorphology

Abstract

DW smith coined in 1966 the word dysmorphology to describe the study of human congenital defects, i.e. abnormalities of body structure that originate before birth. Dysmorphic anomalies can occur in any part of the body and mostly arise during the first 3 months of intrauterine life. There are many different types of birth defects, although individually rare, taken together they account for a disproportionately large fraction of childhood morbidity and mortality. This article is intended to provide background and a basic approach to the diagnosis of the child with malformations