Linked Life Data

2240049

Source:http://linkedlifedata.com/resource/pubmed/id/2240049

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1990-12-5
pubmed:abstractText
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 spectrum has been expanded to include congenital muscular dystrophy. Two sibs with Walker-Warburg syndrome are reported. One sib had congenital glaucoma and hydrocephalus. The other sib had hydrocephalus, microtia, absent auditory canals, and pale retinas, barely within the phenotypic spectrum of the disorder. Elevation of muscle enzymes was consistent with the diagnosis of Walker-Warburg syndrome.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:volume
37
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
87-91
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1990
pubmed:articleTitle
Walker-Warburg syndrome with microtia and absent auditory canals.
pubmed:affiliation
Department of Pediatrics, Rambam Medical Center, Haifa, Israel.
pubmed:publicationType
Journal Article