Knowledge of the neurobiologic mechanisms that produce developmental b
rain disorders has increased considerably with the development and imp
lementation of neuroimaging methodologies. By systematically accessing
the developing brain, neuroimaging studies provide the means to ident
ify disorder-specific brain abnormalities, explore the neuroanatomic b
asis of age-related functional changes, and directly test hypotheses a
bout brain-behavior associations. This article reviews the contributio
n of neuroimaging studies to our understanding of several specific syn
dromes associated with developmental dysfunction in children. Specific
ally, neuroimaging studies of Down, fragile X, Turner's, Williams, and
Rett syndromes are used to explore the mechanisms through which disti
nct genetic factors lead to abnormal brain development and cognitive a
nd behavioral dysfunction in children.