Article
Walker-Warburg syndrome with microtia and absent auditory canals.
American journal of medical genetics - 1 Sept 1990
Gershoni-Baruch R, Mandel H, Miller B, Sujov P, Braun J
Abstract excerpt
Walker-Warburg syndrome is a lethal, autosomal recessive disorder characterized by anomalies of the central nervous system and eye. Typical findings include hydrocephalus, agyria, retinal dysplasia, cerebellar dysgenesis, anterior chamber dysgenesis, and encephalocele. Recently, the phenotypic sp...
Topics
- Abnormalities, Multiple
- Brain
- Ear
- Ear Canal
- Eye Abnormalities
- Female
- Genes, Recessive
- Humans
- Infant
- Infant, Newborn
- Male
- Muscular Dystrophies
- Phenotype
- Syndrome