Dysmorphologic diagnosis for the pediatric practitioner

Abstract

Attaining an accurate diagnosis in children with congenital abnormalities is an important and sometimes vital part of their care. With a basic knowledge of the types and causes of birth defects, the pediatric clinician often can arrive at a correct diagnosis, even in children with rare syndromes or multiple anomalies. This article reviews the four major mechanisms that produce congenital defects, discusses the various types and subtypes of structural anomalies, and provides an algorithmic approach to their diagnosis.