Miller Dieker syndrome
Evidence-based neurology checklist on miller dieker syndrome: Genetics This is caused by microdeletions in chromosome 17p It is associated with mutations in the LIS1, DCX, ARX and TUBA3 genes Pathological features Dysmorphic features Seizures Other neurological features Differential diagnosis of…
Genetics
- This is caused by microdeletions in chromosome 17p
- It is associated with mutations in the LIS1, DCX, ARX and TUBA3 genes
Pathological features
Dysmorphic features
Seizures
Other neurological features
Differential diagnosis of lissencephaly
Differential diagnosis of dysmorphia without lissencephaly
Encephalogram (EEG)
References
- Sorge G, Sorge A. Epilepsy and chromosomal abnormalities. Ital J Pediatr 2010; 36:36.
- Chong SS, Pack SD, Roschke AV, et al. A revision of the lissencephaly and Miller–Dieker syndrome critical regions in chromosome 17p13.3. Hum Mol Genet 1997; 6:147–155.
- Herman TE, Siegel MJ. Miller-Dieker syndrome, type 1 lissencephaly. J Perinatol 2008; 28:313-315.
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- 1q deletion syndrome
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- 3p deletion syndrome
- 6q terminal deletion syndrome
- 15 inversion duplication syndrome
- 15q13.3 microdeletion syndrome
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