Linked Life Data

10951304

Source:http://linkedlifedata.com/resource/pubmed/id/10951304

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2000-9-18
pubmed:abstractText
In 1965, Angelman described 3 cases of what he called "Puppet" children, named for the characteristic signs associated with what is now known as Angelman syndrome, including mental retardation, speech impairment, easy excitability, and frequent spontaneous laughter.(1) Since that report, much progress has been made in defining the syndrome's clinical manifestations and understanding its molecular foundations, including identification of deletions of 15q11-13 in some patients. There are few reports in the ophthalmic literature regarding ocular manifestations of this syndrome. (2,3) We present the case of a child with strabismus associated with Angelman syndrome, and we review the ophthalmic and systemic findings, as well as recent advances in molecular genetics, in these patients.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1091-8531
pubmed:author
pubmed:issnType
Print
pubmed:volume
4
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
248-9
pubmed:dateRevised
2006-4-21
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
Ophthalmic manifestations of Angelman syndrome.
pubmed:affiliation
Departments of Ophthalmology and Pediatrics, Division of Genetics and Metabolism, the University of North Carolina at Chapel Hill, 27599-7040, USA.
pubmed:publicationType
Journal Article, Case Reports