Article
Cobblestone lissencephaly with normal eyes and muscle.
Neuropediatrics - 1 Apr 1996
Dobyns W B, Patton M A, Stratton R F, Mastrobattista J M, Blanton S H, Northrup H
Abstract excerpt
Cobblestone lissencephaly is the characteristic brain malformation observed in Fukuyama congenital muscular dystrophy (FCMD), muscle-eye-brain disease (MEB), and Walker-Warburg syndrome (WWS). The diagnostic criteria for all three require the presence of congenital muscular dystrophy, and criteri...
Topics
- Adolescent
- Alleles
- Brain
- Child
- Child, Preschool
- Consanguinity
- Dandy-Walker Syndrome
- Electromyography
- Female
- Genetic Linkage
- Haplotypes
- Humans
- Magnetic Resonance Imaging
- Male
- Muscle, Skeletal
- Muscular Dystrophies
- Neurologic Examination
- Pedigree