Linked Life Data

2658583

Source:http://linkedlifedata.com/resource/pubmed/id/2658583

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1989-6-30
pubmed:abstractText
We have studied a boy with acrocallosal syndrome and hypogenitalism. He was the offspring of double first cousins. He had unusual facial appearance, postaxial polydactyly with unilateral soft tissue syndactyly of fingers, mental retardation, and absence of corpus callosum. Findings in the present case were compared with those of previously reported cases. Other syndromes associated with agenesis of the corpus callosum must be differentiated. The main differences between the acrocallosal syndrome and the Greig syndrome are outlined with particular emphasis on digital anomalies. The acrocallosal syndrome is an autosomal recessive trait with variable expressivity. Hypogenitalism may be a presenting feature. Positive consanguinity provides further evidence for autosomal recessive inheritance.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:volume
32
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
301-5
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1989
pubmed:articleTitle
Hypogenitalism in the acrocallosal syndrome.
pubmed:affiliation
Human Genetics Department, National Research Center, Cairo, Egypt.
pubmed:publicationType
Journal Article, Review, Case Reports