Miller-Dieker syndrome

Last revised by Yuranga Weerakkody on 13 Jun 2023

Miller-Dieker syndrome (MDS) is a rare chromosomal anomaly and is one of the conditions considered part of lissencephaly type I (classic) 6.  It is the form of lissencephaly that is most recognizable on prenatal imaging due to its severity 5.

Features include:

It results from a deletion in chromosome 17p13.3, which includes the PAFAH1B1 and YWHAE genes. It is thought to carry an autosomal dominant inheritance.

May show many of the above clinicopathological features. There may also be evidence of intra-uterine growth restriction (IUGR).

The features are those of type I lissencephaly. The brain is usually grossly abnormal in outline, with only a few shallow sulci and shallow Sylvian fissures, taking on an hour glass or figure-8 appearance on axial imaging. The cortex is markedly thickened measuring 12-20 mm (rather than the normal 3-4 mm) 7.

The overall prognosis is poor with most fetuses not surviving beyond infancy. There may be recurrence rate of ~25% for future pregnancies.

The syndrome is named after J Q Miller 3 and H Dieker

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