Linked Life Data

16531739

Source:http://linkedlifedata.com/resource/pubmed/id/16531739

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2006-3-13
pubmed:abstractText
Marshall-Smith syndrome is characterized by overgrowth, advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features and variable mental retardation. Respiratory problems are a major cause of early morbidity and mortality. Ocular features have been mentioned in previous reports, but details are limited. This report describes the clinical features of a child with typical features of Marshall-Smith syndrome with emphasis on visual function. She had megalocornea, hypoplastic optic discs and was partially sighted. Aggressive management of the early respiratory and feeding problems improved survival in this child.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1473-5717
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
15
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
111-3
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Visual impairment and prolonged survival in a girl with Marshall-Smith syndrome.
pubmed:affiliation
Department of Clinical Genetics, Great Ormond Street Hospital, London, UK. c.deshpande@ich.ucl.ac.uk
pubmed:publicationType
Journal Article, Case Reports