Linked Life Data

1491747

Source:http://linkedlifedata.com/resource/pubmed/id/1491747

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1993-3-2
pubmed:abstractText
The acrocallosal syndrome (ACS) is a rare malformation syndrome characterized by a distinct pattern of craniofacial, brain and limb anomalies. It was first described by Schinzel in 1979 and followed by 25 other cases reported in the literature. Neurodevelopmental aspects include hypotonia of prenatal onset, seizures and moderate to severe mental retardation. The condition is probably of autosomal recessive inheritance but is closely resembles the Greig cephalopolysyndactyly syndrome (GCPS), an autosomal dominantly inherited disorder mapped to the short arm of chromosome seven. We reviewed the literature for aspects of associated cystic malformations in addition to agenesis of the corpus callosum and report on another patient with ACS. Prognosis is dependent on the degree of hypotonia and early onset of epilepsy rather than the degree of craniofacial and limb malformations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0174-304X
pubmed:author
pubmed:issnType
Print
pubmed:volume
23
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
292-6
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1992
pubmed:articleTitle
Acrocallosal syndrome: association with cystic malformation of the brain and neurodevelopmental aspects.
pubmed:affiliation
Klinik für Pädiatrie, Medizinische Universität zu Lübeck, Germany.
pubmed:publicationType
Journal Article, Case Reports