- neuronal migrational anomalies: lissencephaly type I
- prominent subarachnoid spaces
- widened cerebral ventricles
- corneal clouding
It often results from a defect in chromosome 17p13.3 with partial loss of this short arm. 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 12-20mm (rather than the normal 3-4mm) 7.
Treatment and prognosis
The overall prognosis is poor with most fetuses not surviving beyond infancy. There may be recurrence rate of ~25% for future pregnancies.
History and etymology
The syndrome is named after J Q Miller 3 and H Dieker.
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- 6. Volpe JJ. Neurology of the newborn. W B Saunders Co. (2008) ISBN:1416039953. Read it at Google Books - Find it at Amazon
- 7. Barkovich AJ, Koch TK, Carrol CL. The spectrum of lissencephaly: report of ten patients analyzed by magnetic resonance imaging. Ann. Neurol. 1991;30 (2): 139-46. doi:10.1002/ana.410300204 - Pubmed citation