Linked Life Data

1659985

Source:http://linkedlifedata.com/resource/pubmed/id/1659985

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
11
pubmed:dateCreated
1992-1-9
pubmed:abstractText
The acrocallosal syndrome (ACS) was recognized by Schinzel in 1979 as a specific entity, characterized by the association of craniofacial anomalies, total or partial agenesis of corpus callosum, polysyndactyly and mental retardation. The inheritance is autosomal recessive, based on instances of recurrence in siblings and cousins and parental consanguinity. A large inbred kindred with recurrent ACS is presented. This family further strengthens the hypothesis of autosomal recessive inheritance for this syndrome. The array of clinical manifestations in this sibship and those previously reported exemplify the phenomenon of inter- and intrafamilial variability that must be considered when defining ACS. Based on a review of published reports and the present family, essential, additional and occasional findings are distinguished. Attention is drawn to geographical clustering of the families.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0340-6199
pubmed:author
pubmed:issnType
Print
pubmed:volume
150
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
797-9
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1991
pubmed:articleTitle
Further delineation of the acrocallosal syndrome.
pubmed:affiliation
Clinical Genetics Unit, Kaplan Hospital, Rehovot, Israel.
pubmed:publicationType
Journal Article, Case Reports