Linked Life Data

1612213

Source:http://linkedlifedata.com/resource/pubmed/id/1612213

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1992-7-24
pubmed:abstractText
Roberts/pseudothalidomide syndrome is a rare autosomal recessive disorder, involving growth and mental retardation, midline craniofacial abnormalities and tetraphocomelia. Cytogenetic studies have confirmed reproducible chromosomal abnormalities throughout the syndrome's wide range of clinical presentations. A family with two affected siblings is presented. One child was stillborn; the other, though severely affected by all of the physical characteristics of this disorder, has developed normally both at school and in his social-personal skills. This report supports the idea that Roberts syndrome and pseudothalidomide syndrome are the same condition, and emphasizes that normal intelligence and positive social-personal adjustment are possible, even with all of the stigmata of Roberts syndrome. Aggressive medical intervention is suggested, as well as forthright parental counselling when discussing the possible outcome for these patients.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0012-1622
pubmed:author
pubmed:issnType
Print
pubmed:volume
34
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
534-9
pubmed:dateRevised
2009-11-11
pubmed:meshHeading
pubmed:year
1992
pubmed:articleTitle
Roberts/pseudothalidomide syndrome and normal intelligence: approaches to diagnosis and management.
pubmed:affiliation
Department of Neurology, Children's Hospital, Medical University of South Carolina, Charleston 29425.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports