Search
Miller-Dieker lissencephaly syndrome
Pathology:
- incomplete migration of immature neurons to the cerebral cortex during the 3rd & 4th months of gestation
Genetics:
- contiguous gene deletion syndrome of chromosome 17p13.3
- associated with defects in PAFAH1B1
Clinical manifestations:
1) microcephaly
2) large fontanelles
3) bitemporal grooving of the forehead
4) short nose with upturned nares
5) ear anomalies
6) micrognathia
7) visceral anomalies
8) agyria is an inconsistent finding
Laboratory:
- chromosome 17p13.3 deletion
Related
platelet-activating factor acetylhydrolase IB subunit alpha; PAF acetylhydrolase 45 kD subunit; PAF-AH 45 kD subunit; PAF-AH alpha; PAFAH alpha; Lissencephaly-1 protein; LIS-1 (PAFAH1B1, LIS1, MDCR, MDS, PAFAHA)
General
central nervous system (CNS) malformation
developmental disorder syndrome (multisystem disorder)
genetic syndrome (multisystem disorder)
Database Correlations
OMIM correlations
MORBIDMAP 601545
References
Friede. Developmental Neuropathology 2nd ed.
Springer-Verlag 1989 p.330