- neuronal migrational anomalies : lissencephaly type I
- prominent sub arachnoid 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 clinico-pathological 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.
Named after J Q Miller 3 and H Dieker.
The overall prognosis is poor with most fetuses not surviving beyond infancy. There may be recurrence rate of ~ 25% for future pregnancies.
- 1. Fong KW, Ghai S, Toi A et-al. Prenatal ultrasound findings of lissencephaly associated with Miller-Dieker syndrome and comparison with pre- and postnatal magnetic resonance imaging. Ultrasound Obstet Gynecol. 2004;24 (7): 716-23. doi:10.1002/uog.1777 - Pubmed citation
- 2. Van zelderen-bhola SL, Breslau-siderius EJ, Beverstock GC et-al. Prenatal and postnatal investigation of a case with Miller-Dieker syndrome due to a familial cryptic translocation t(17;20) (p13.3;q13.3) detected by fluorescence in situ hybridization. Prenat. Diagn. 1997;17 (2): 173-9. Prenat. Diagn. (link) - Pubmed citation
- 3. Miller JQ. Lissencephaly in 2 siblings. Neurology. 1963;13 : 841-50. - Pubmed citation
- 4. Entezami M, Albig M, Knoll U et-al. Ultrasound Diagnosis of Fetal Anomalies. Thieme. (2003) ISBN:1588902129. Read it at Google Books - Find it at Amazon
- 5. Ghai S, Fong KW, Toi A et-al. Prenatal US and MR imaging findings of lissencephaly: review of fetal cerebral sulcal development. Radiographics. 26 (2): 389-405. doi:10.1148/rg.262055059 - Pubmed citation
- 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
Synonyms & Alternative Spellings
|Synonyms or Alternative Spelling||Include in Listings?|
|Miller Dieker syndrome||✗|
|Miller-Dieker syndrome (MDS)||✗|
|Miller-Dieker lissencephaly syndrome||✓|
|Miller-Dieker lissencephaly syndrome (MDLS)||✗|
|Chromosome 17p13.3 deletion syndrome||✓|
|17p deletion syndrome||✗|