Miller-Dieker syndrome
Definition
Miller-Dieker syndrome (MDS) is a rare genetic disorder. Its signs and symptoms include severe abnormalities in brain development as well as characteristic facial features. Additional birth defects may also be present.
Description
MDS was named for the two physicians, J. Miller and H. Dieker who independently described the condition in the 1960s. The hallmark of MDS is lissencephaly (smooth brain), a condition in which the outer layer of the brain, the cerebral cortex, is abnormally thick and lacks the normal convolutions (gyri). In some areas of the brain, gyri are fewer in number but wider than normal (pachygyri). Other areas lack gyri entirely (agyri). Normally, during the third and fourth months of pregnancy, the brain cells in the baby multiply and move to the surface of the...
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